From 36081ecba8debb721a2f35f4e17688342a65641c Mon Sep 17 00:00:00 2001 From: aaronabend Date: Mon, 24 Aug 2026 12:36:47 -0400 Subject: [PATCH 1/8] [ARI:0001135, ARI:0001143] - mappings review --- mappings/ari.equivalencies.tsv | 13 +++ mappings/ari.sssom.tsv | 13 +++ ontologies/ari_t1d.owl | 161 ++++++++++++++++++++++++++++++--- 3 files changed, 172 insertions(+), 15 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index 8b41707..982fcb1 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -500,3 +500,16 @@ ARI 0001143 Neuromyelitis optica skos:exactMatch icd10cm G36.0 manual github:aar ARI 0001143 Neuromyelitis optica skos:exactMatch ORPHA 71211 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch mesh D009471 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch OMIM NoTermFound manual-absent github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch DOID 2377 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch MONDO 0005301 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch ncit C3243 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 128460000 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 426373005 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 428700003 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 49692006 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 24700007 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 374919 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4178929 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4145049 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 376970 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4027727 manual github:aaronabend diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 7f98369..2f1e395 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -520,3 +520,16 @@ ARI:0001143 Neuromyelitis optica skos:exactMatch icd10cm:G36.0 icd10cm semapv:M ARI:0001143 Neuromyelitis optica skos:exactMatch ORPHA:71211 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch mesh:D009471 mesh semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch sssom:NoTermFound OMIM semapv:ManualMappingCuration github:aaronabend 2026-08-17 +ARI:0001135 Multiple sclerosis skos:exactMatch DOID:2377 DOID semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch MONDO:0005301 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch ncit:C3243 ncit semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:128460000 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:426373005 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:24700007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4145049 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:376970 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4027727 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index 0a3e1ce..cca11b7 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -3653,7 +3653,27 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-04 APA 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 + Aplastic Anemias + Aplastic anemia, unspecified + Aplastic Anaemia + Anemia, Aplastic + Aplastic Anaemias + Anaemia, Aplastic + idiopathic aplastic anemia - subtype of Aplastic anemia (MONDO:0012197) + Recurrent Aplastic Anemia - subtype of Aplastic anemia (NCIT:C153293) + acquired aplastic anemia - subtype of Aplastic anemia (MONDO:0015610) + congenital hypoplastic anemia - subtype of Aplastic anemia (DOID:1342) + Aplastic Anemia due to Infection - subtype of Aplastic anemia (NCIT:C35466) + Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C61229) + inherited aplastic anemia - subtype of Aplastic anemia (MONDO:0001713) + myelophthisic anemia - subtype of Aplastic anemia (MONDO:0005868) + Very Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173788) + Non-Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173789) + Aplastic Anemia due to Radiation - subtype of Aplastic anemia (NCIT:C35465) + Drug/Toxin-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C70613) + Drug-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C35343) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +6 synonym(s), +13 clinical subtype(s) @@ -6446,7 +6466,26 @@ The first reports of narcolepsy being an autoimmune disease came in 2013, but re 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 193042000; confirmed OMOP 437854; confirmed MONDO 0016158; confirmed ICD10 G47.411; confirmed ORPHANET 2073; confirmed UMLS C0751362; flagged SNOMED 735676003; flagged OMOP 42536721 193042000 437854 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID + Narcoleptic Syndrome + Syndrome, Gelineau's + Syndromes, Gelineau's + Syndromes, Narcoleptic + Gelineau's Syndromes + Gelineaus Syndrome + paroxysmal sleep + Syndrome, Narcoleptic + Sleep, Paroxysmal + narcolepsy + Narcoleptic Syndromes + narcolepsy with or without cataplexy + Syndrome, Gelineau + Narcolepsy, without cataplexy + Gelineau Syndrome + Gelineau's Syndrome + hereditary narcolepsy - subtype of Cataplexy and narcolepsy (MONDO:0100554) + narcolepsy-cataplexy syndrome - subtype of Cataplexy and narcolepsy (MONDO:0016158) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +16 synonym(s), +2 clinical subtype(s) @@ -6829,7 +6868,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -6926,7 +6965,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128209004; confirmed OMOP 381009; confirmed DOID 5213; confirmed MONDO 0006702; confirmed NCI C84636; confirmed ICD10 G61.81; confirmed ORPHANET 2932; confirmed UMLS C0393819; confirmed MESH D020277; flagged SNOMED 230564004; flagged OMOP 4048024; flagged ICD10 357.81 128209004 381009 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7049,7 +7088,7 @@ Currently, the cause of interstitial cystitis is unknown. There are two main the 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7191,7 +7230,17 @@ However, in some people, the Lyme disease triggers symptoms similar to rheumatoi 2026-08-03 18:00 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-03 18:15 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-12 01:11 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM + Syndromes, Post-Lyme Disease + PTLDS + disorder due to consequences of Lyme disease + post-Lyme disease + Post-Lyme Disease Syndromes + Syndrome, Post-Lyme Disease + Lyme Disease, Chronic + post-Lyme disease syndrome + post-treatment Lyme disease syndrome + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s) @@ -7404,7 +7453,7 @@ Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disor 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7636,7 +7685,7 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM @@ -7749,7 +7798,10 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM + Cogan syndrome + diffuse interstitual keratitis + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -7921,7 +7973,29 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 398937006; confirmed OMOP 4160887; confirmed MONDO 0018922; confirmed NCI C208228; confirmed ICD10 D59.12; confirmed ORPHANET 56425; confirmed UMLS C0175816; flagged SNOMED 127055007; flagged OMOP 4131128 398937006 4160887 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID + Anaemia, Autoimmune Haemolytic + Autoimmune Haemolytic Anaemias + AIHA + Autoimmune haemolytic anaemia + Autoimmune Hemolytic Anemias + autoimmune haemolytic anemia + autoimmune hemolytic anaemia + autoimmune hemolytic anemia + Anemia, Hemolytic, Autoimmune + AHA + Anemia, Hemolytic, Acquired Autoimmune + Hemolytic Anemia, Autoimmune + Haemolytic Anaemia, Autoimmune + Anemia, Autoimmune Hemolytic + Evans syndrome - subtype of Cold agglutinin disease (MONDO:0016030) + neonatal autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0018358) + drug-induced autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019535) + giant cell hepatitis with autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:1060166) + autoimmune hemolytic anemia, warm type - subtype of Cold agglutinin disease (MONDO:0019532) + autoimmune hemolytic anemia, cold type - subtype of Cold agglutinin disease (MONDO:0016450) + mixed-type autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019534) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +14 synonym(s), +7 clinical subtype(s) @@ -8055,7 +8129,10 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH + Immunodeficiency, Common Variable, 8, with Autoimmunity + CVID8 + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) @@ -8119,7 +8196,11 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128200000; confirmed OMOP 4134577; confirmed DOID 3223; confirmed MONDO 0019369; confirmed NCI C206547; confirmed ORPHANET 83452; confirmed UMLS C0458219; confirmed MESH D020918; flagged SNOMED 408751001, 734947007; flagged OMOP 42536233, 4256912 128200000 4134577 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 + algoneurodystrophy + complex regional pain syndrome type 2 - subtype of Complex regional pain syndrome (MONDO:0020572) + complex regional pain syndrome type 1 - subtype of Complex regional pain syndrome (MONDO:0011441) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +2 clinical subtype(s) @@ -8290,7 +8371,24 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen C2965 2026-08-12 01:01 | user | Edited: nci 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 34000006; confirmed MONDO 0005011; confirmed DOID 8778; flagged ICD10 555.1 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 + paediatric Crohn's disease + Crohn disease + NON RARE IN EUROPE: Crohn disease + pediatric Crohn's disease + Inflammatory Bowel Disease 1 + Crohn's Enteritis + regional enteritis + Crohn's disease of large bowel + Crohns Disease + perianal Crohn disease - subtype of Crohn's disease (MONDO:0005537) + Crohn Disease of Rectum - subtype of Crohn's disease (NCIT:C219892) + Crohn disease of the esophagus - subtype of Crohn's disease (MONDO:0022901) + Crohn Colitis - subtype of Crohn's disease (NCIT:C35211) + small bowel Crohn disease - subtype of Crohn's disease (MONDO:0005539) + oral Crohn disease - subtype of Crohn's disease (MONDO:0005535) + Crohn Disease of Small Intestine - subtype of Crohn's disease (NCIT:C35210) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s), +7 clinical subtype(s) @@ -8409,7 +8507,28 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2024-09 COP 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM + noninfectious pneumonia + Idiopathic fibrosing alveolitis + bronchiolitis obliterans organizing pneumonia + Organizing Pneumonia + cryptogenic organizing pneumonitis + Diffuse idiopathic pulmonary fibrosis + idiopathic interstitial pneumonitis + COP + BOOP + organising pneumonia + respiratory bronchiolitis-interstitial lung disease syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0019204) + idiopathic pulmonary fibrosis - subtype of Cryptogenic organizing pneumonia (MONDO:0800504) + combined pulmonary fibrosis-emphysema syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0017591) + desquamative interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050158) + nonspecific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2801) + follicular bronchiolits - subtype of Cryptogenic organizing pneumonia (MONDO:0800114) + non-specific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (MONDO:0019622) + acute interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2800) + idiopathic pleuroparenchymal fibroelastosis - subtype of Cryptogenic organizing pneumonia (MONDO:0044633) + lymphoid interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050159) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +10 synonym(s), +10 clinical subtype(s) @@ -8495,7 +8614,17 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2026-06-15 10:37 | Importer | Imported from ARI core reports 7119001 4324123 - 2026-08-17 18:04 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM + 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM + Lupus Erythematosus, Cutaneous + subacute cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015573) + chronic cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015574) + Systemic Lupus Erythematosus Rash - subtype of Cutaneous lupus erythematosus (NCIT:C27171) + bullous systemic lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0044113) + Lupus Erythematosus Tumidus - subtype of Cutaneous lupus erythematosus (NCIT:C117112) + Rowell syndrome - subtype of Cutaneous lupus erythematosus (MONDO:0041186) + Drug Induced Cutaneous Lupus Erythematosus - subtype of Cutaneous lupus erythematosus (NCIT:C112203) + Chilblain lupus - subtype of Cutaneous lupus erythematosus (DOID:0060386) + 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +8 clinical subtype(s) @@ -14028,6 +14157,7 @@ Although this rare disease most commonly affects children, adults may have this 2024-09 MS 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-24 16:36 | aaronabend | Cross-reference review: confirmed DOID 2377; confirmed MONDO 0005301; confirmed NCI C3243; confirmed SNOMED 128460000, 426373005, 428700003, 49692006, 24700007; confirmed OMOP 374919, 4178929, 4145049, 376970, 4027727 @@ -14926,6 +15056,7 @@ The specific location of vasculitis inflammation determines what tissue or organ NMO 2026-06-15 10:37 | Importer | Imported from ARI core reports 2026-08-17 18:32 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM + 2026-08-24 16:36 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM From cda0410cd72b022a3ea3f9f30114f53050bd0a6f Mon Sep 17 00:00:00 2001 From: aaronabend Date: Thu, 27 Aug 2026 13:57:39 -0400 Subject: [PATCH 2/8] [ARI:0001019, ARI:0001028, ARI:0001135, ARI:0001143] - mappings review --- mappings/ari.equivalencies.tsv | 10 ++ mappings/ari.sssom.tsv | 36 ++++--- ontologies/ari_t1d.owl | 166 ++++----------------------------- 3 files changed, 53 insertions(+), 159 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index 982fcb1..e6887ea 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -500,6 +500,15 @@ ARI 0001143 Neuromyelitis optica skos:exactMatch icd10cm G36.0 manual github:aar ARI 0001143 Neuromyelitis optica skos:exactMatch ORPHA 71211 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch mesh D009471 manual github:aaronabend ARI 0001143 Neuromyelitis optica skos:exactMatch OMIM NoTermFound manual-absent github:aaronabend +ARI 0001056 Birdshot chorioretinopathy skos:exactMatch ORPHA 179 manual github:KrishnaTO +ARI 0001028 Autoimmune encephalitis skos:exactMatch omop 4318558 manual github:aaronabend +ARI 0001028 Autoimmune encephalitis skos:exactMatch SNOMEDCT 95643007 manual github:aaronabend +ARI 0001028 Autoimmune encephalitis skos:exactMatch MONDO 0020640 manual github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch SNOMEDCT 445187004 manual github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch omop 40482477 manual github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch DOID 0080744 manual github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch MONDO 0019344 manual github:aaronabend +ARI 0001019 Antisynthetase syndrome skos:exactMatch ORPHA 81 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch DOID 2377 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch MONDO 0005301 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch ncit C3243 manual github:aaronabend @@ -513,3 +522,4 @@ ARI 0001135 Multiple sclerosis skos:exactMatch omop 4178929 manual github:aarona ARI 0001135 Multiple sclerosis skos:exactMatch omop 4145049 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch omop 376970 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch omop 4027727 manual github:aaronabend +ARI 0001028 Autoimmune encephalitis skos:exactMatch icd10cm NoTermFound manual-absent github:aaronabend diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 2f1e395..4933ed7 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -520,16 +520,26 @@ ARI:0001143 Neuromyelitis optica skos:exactMatch icd10cm:G36.0 icd10cm semapv:M ARI:0001143 Neuromyelitis optica skos:exactMatch ORPHA:71211 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch mesh:D009471 mesh semapv:ManualMappingCuration github:aaronabend 2026-08-17 ARI:0001143 Neuromyelitis optica skos:exactMatch sssom:NoTermFound OMIM semapv:ManualMappingCuration github:aaronabend 2026-08-17 -ARI:0001135 Multiple sclerosis skos:exactMatch DOID:2377 DOID semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch MONDO:0005301 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch ncit:C3243 ncit semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:128460000 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:426373005 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:24700007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:4145049 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:376970 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:4027727 omop semapv:ManualMappingCuration github:aaronabend 2026-08-24 +ARI:0001056 Birdshot chorioretinopathy skos:exactMatch ORPHA:179 ORPHA semapv:ManualMappingCuration github:KrishnaTO 2026-08-20 +ARI:0001028 Autoimmune encephalitis skos:exactMatch omop:4318558 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001028 Autoimmune encephalitis skos:exactMatch SNOMEDCT:95643007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001028 Autoimmune encephalitis skos:exactMatch MONDO:0020640 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001019 Antisynthetase syndrome skos:exactMatch SNOMEDCT:445187004 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001019 Antisynthetase syndrome skos:exactMatch omop:40482477 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001019 Antisynthetase syndrome skos:exactMatch DOID:0080744 DOID semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001019 Antisynthetase syndrome skos:exactMatch MONDO:0019344 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001019 Antisynthetase syndrome skos:exactMatch ORPHA:81 ORPHA semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch DOID:2377 DOID semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch MONDO:0005301 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch ncit:C3243 ncit semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:128460000 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:426373005 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:24700007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4145049 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:376970 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch omop:4027727 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001028 Autoimmune encephalitis skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:aaronabend 2026-08-27 diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index cca11b7..6a2257b 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -3526,6 +3526,7 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-09 ASY 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed SNOMED 445187004; confirmed OMOP 40482477; confirmed DOID 0080744; confirmed MONDO 0019344; confirmed ORPHANET 81 @@ -3653,27 +3654,7 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2024-04 APA 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 - Aplastic Anemias - Aplastic anemia, unspecified - Aplastic Anaemia - Anemia, Aplastic - Aplastic Anaemias - Anaemia, Aplastic - idiopathic aplastic anemia - subtype of Aplastic anemia (MONDO:0012197) - Recurrent Aplastic Anemia - subtype of Aplastic anemia (NCIT:C153293) - acquired aplastic anemia - subtype of Aplastic anemia (MONDO:0015610) - congenital hypoplastic anemia - subtype of Aplastic anemia (DOID:1342) - Aplastic Anemia due to Infection - subtype of Aplastic anemia (NCIT:C35466) - Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C61229) - inherited aplastic anemia - subtype of Aplastic anemia (MONDO:0001713) - myelophthisic anemia - subtype of Aplastic anemia (MONDO:0005868) - Very Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173788) - Non-Severe Aplastic Anemia - subtype of Aplastic anemia (NCIT:C173789) - Aplastic Anemia due to Radiation - subtype of Aplastic anemia (NCIT:C35465) - Drug/Toxin-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C70613) - Drug-Induced Aplastic Anemia - subtype of Aplastic anemia (NCIT:C35343) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +6 synonym(s), +13 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed SNOMED 306058006; confirmed OMOP 137829; confirmed DOID 12449; confirmed MONDO 0015909; confirmed NCI C2870; confirmed ICD10 D61.9; confirmed OMIM 609135; confirmed UMLS C0002874; confirmed MESH D000741; flagged ORPHANET 182040 @@ -3996,6 +3977,7 @@ The trigger for antisynthetase syndrome is unknown, but it may be associated wit 2025-02 AE 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed OMOP 4318558; confirmed SNOMED 95643007; confirmed MONDO 0020640; no term in ICD10 @@ -6263,6 +6245,7 @@ Cicatricial pemphigoid is usually not chronic, and most patients symptoms disapp Autoimmune 2 2026-06-15 10:37 | Importer | Imported from ARI core reports + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed ORPHANET 179 @@ -6466,26 +6449,7 @@ The first reports of narcolepsy being an autoimmune disease came in 2013, but re 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 193042000; confirmed OMOP 437854; confirmed MONDO 0016158; confirmed ICD10 G47.411; confirmed ORPHANET 2073; confirmed UMLS C0751362; flagged SNOMED 735676003; flagged OMOP 42536721 193042000 437854 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID - Narcoleptic Syndrome - Syndrome, Gelineau's - Syndromes, Gelineau's - Syndromes, Narcoleptic - Gelineau's Syndromes - Gelineaus Syndrome - paroxysmal sleep - Syndrome, Narcoleptic - Sleep, Paroxysmal - narcolepsy - Narcoleptic Syndromes - narcolepsy with or without cataplexy - Syndrome, Gelineau - Narcolepsy, without cataplexy - Gelineau Syndrome - Gelineau's Syndrome - hereditary narcolepsy - subtype of Cataplexy and narcolepsy (MONDO:0100554) - narcolepsy-cataplexy syndrome - subtype of Cataplexy and narcolepsy (MONDO:0016158) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +16 synonym(s), +2 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed NCI C196015; confirmed OMIM 161400; confirmed MESH D009290; flagged DOID 8986; no term in DOID @@ -6868,7 +6832,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 52702003; confirmed OMOP 432738; confirmed DOID 8544; confirmed MONDO 0005404; confirmed NCI C3037; confirmed ICD10 G93.32; confirmed ORPHANET 1983; confirmed UMLS C0015674; confirmed MESH D015673; flagged ICD10 780.71 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: no term in OMIM @@ -6965,7 +6929,7 @@ The cause of this syndrome is unknown, however, researchers believe that it may 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128209004; confirmed OMOP 381009; confirmed DOID 5213; confirmed MONDO 0006702; confirmed NCI C84636; confirmed ICD10 G61.81; confirmed ORPHANET 2932; confirmed UMLS C0393819; confirmed MESH D020277; flagged SNOMED 230564004; flagged OMOP 4048024; flagged ICD10 357.81 128209004 381009 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7088,7 +7052,7 @@ Currently, the cause of interstitial cystitis is unknown. There are two main the 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 38731000087104; confirmed OMOP 1450471; confirmed DOID 1678; confirmed MONDO 0018301; confirmed NCI C27189; confirmed ICD10 N30.1; confirmed ORPHANET 37202; confirmed UMLS C0600040; confirmed MESH D018856 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7230,17 +7194,7 @@ However, in some people, the Lyme disease triggers symptoms similar to rheumatoi 2026-08-03 18:00 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-03 18:15 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 2026-08-12 01:11 | KrishnaTO | Cross-reference review: flagged DOID 11729; flagged ICD10 088.81, A69.2; flagged SNOMED 1269516003 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM - Syndromes, Post-Lyme Disease - PTLDS - disorder due to consequences of Lyme disease - post-Lyme disease - Post-Lyme Disease Syndromes - Syndrome, Post-Lyme Disease - Lyme Disease, Chronic - post-Lyme disease syndrome - post-treatment Lyme disease syndrome - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed MONDO 0700280; confirmed NCI C119039; confirmed UMLS C3890422; confirmed MESH D000077342; no term in ORPHANET; no term in DOID; no term in SNOMED; no term in ICD10; no term in OMIM @@ -7453,7 +7407,7 @@ Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disor 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1204420006; confirmed OMOP 37163124; confirmed DOID 0060645; confirmed MONDO 0009813; confirmed NCI C119042; confirmed ICD10 M86.3; confirmed ORPHANET 324964; confirmed UMLS C0410422; confirmed MESH C535456; flagged OMIM 609628 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in OMIM + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: no term in OMIM @@ -7685,7 +7639,7 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1119304009; confirmed OMOP 600589; confirmed DOID 0080848; confirmed MONDO 0100233; confirmed NCI C179263; confirmed UMLS C5433293; confirmed MESH D000094024 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: no term in ORPHANET; no term in OMIM @@ -7798,10 +7752,7 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 405810005; confirmed OMOP 4233620; confirmed ICD10 H16.32; confirmed ORPHANET 1467; confirmed MESH D055952; flagged ICD10 370.52; flagged UMLS C0155089 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM - Cogan syndrome - diffuse interstitual keratitis - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed DOID 0060216; confirmed MONDO 0015453; confirmed UMLS C0271270; no term in NCI; no term in OMIM @@ -7973,29 +7924,7 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 398937006; confirmed OMOP 4160887; confirmed MONDO 0018922; confirmed NCI C208228; confirmed ICD10 D59.12; confirmed ORPHANET 56425; confirmed UMLS C0175816; flagged SNOMED 127055007; flagged OMOP 4131128 398937006 4160887 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID - Anaemia, Autoimmune Haemolytic - Autoimmune Haemolytic Anaemias - AIHA - Autoimmune haemolytic anaemia - Autoimmune Hemolytic Anemias - autoimmune haemolytic anemia - autoimmune hemolytic anaemia - autoimmune hemolytic anemia - Anemia, Hemolytic, Autoimmune - AHA - Anemia, Hemolytic, Acquired Autoimmune - Hemolytic Anemia, Autoimmune - Haemolytic Anaemia, Autoimmune - Anemia, Autoimmune Hemolytic - Evans syndrome - subtype of Cold agglutinin disease (MONDO:0016030) - neonatal autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0018358) - drug-induced autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019535) - giant cell hepatitis with autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:1060166) - autoimmune hemolytic anemia, warm type - subtype of Cold agglutinin disease (MONDO:0019532) - autoimmune hemolytic anemia, cold type - subtype of Cold agglutinin disease (MONDO:0016450) - mixed-type autoimmune hemolytic anemia - subtype of Cold agglutinin disease (MONDO:0019534) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +14 synonym(s), +7 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed MESH D000744; no term in OMIM; no term in DOID @@ -8129,10 +8058,7 @@ More study is needed. 2026-08-03 18:00 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-03 18:15 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 1197477000; confirmed OMOP 37162777; confirmed DOID 0081151; confirmed MONDO 0013863; confirmed ORPHANET 445018; confirmed OMIM 614700; confirmed UMLS C3553512 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH - Immunodeficiency, Common Variable, 8, with Autoimmunity - CVID8 - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +2 synonym(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed NCI C176809; no term in ICD10; no term in MESH @@ -8196,11 +8122,7 @@ More study is needed. 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 128200000; confirmed OMOP 4134577; confirmed DOID 3223; confirmed MONDO 0019369; confirmed NCI C206547; confirmed ORPHANET 83452; confirmed UMLS C0458219; confirmed MESH D020918; flagged SNOMED 408751001, 734947007; flagged OMOP 42536233, 4256912 128200000 4134577 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 - algoneurodystrophy - complex regional pain syndrome type 2 - subtype of Complex regional pain syndrome (MONDO:0020572) - complex regional pain syndrome type 1 - subtype of Complex regional pain syndrome (MONDO:0011441) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +2 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed OMIM 604335; confirmed ICD10 M89.0 @@ -8371,24 +8293,7 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen C2965 2026-08-12 01:01 | user | Edited: nci 2026-08-12 01:11 | KrishnaTO | Cross-reference review: confirmed SNOMED 34000006; confirmed MONDO 0005011; confirmed DOID 8778; flagged ICD10 555.1 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 - paediatric Crohn's disease - Crohn disease - NON RARE IN EUROPE: Crohn disease - pediatric Crohn's disease - Inflammatory Bowel Disease 1 - Crohn's Enteritis - regional enteritis - Crohn's disease of large bowel - Crohns Disease - perianal Crohn disease - subtype of Crohn's disease (MONDO:0005537) - Crohn Disease of Rectum - subtype of Crohn's disease (NCIT:C219892) - Crohn disease of the esophagus - subtype of Crohn's disease (MONDO:0022901) - Crohn Colitis - subtype of Crohn's disease (NCIT:C35211) - small bowel Crohn disease - subtype of Crohn's disease (MONDO:0005539) - oral Crohn disease - subtype of Crohn's disease (MONDO:0005535) - Crohn Disease of Small Intestine - subtype of Crohn's disease (NCIT:C35210) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +9 synonym(s), +7 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed ICD10 K50; confirmed NCI C2965; confirmed OMOP 201606; confirmed ORPHANET 206; confirmed MESH D003424 @@ -8507,28 +8412,7 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2024-09 COP 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM - noninfectious pneumonia - Idiopathic fibrosing alveolitis - bronchiolitis obliterans organizing pneumonia - Organizing Pneumonia - cryptogenic organizing pneumonitis - Diffuse idiopathic pulmonary fibrosis - idiopathic interstitial pneumonitis - COP - BOOP - organising pneumonia - respiratory bronchiolitis-interstitial lung disease syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0019204) - idiopathic pulmonary fibrosis - subtype of Cryptogenic organizing pneumonia (MONDO:0800504) - combined pulmonary fibrosis-emphysema syndrome - subtype of Cryptogenic organizing pneumonia (MONDO:0017591) - desquamative interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050158) - nonspecific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2801) - follicular bronchiolits - subtype of Cryptogenic organizing pneumonia (MONDO:0800114) - non-specific interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (MONDO:0019622) - acute interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:2800) - idiopathic pleuroparenchymal fibroelastosis - subtype of Cryptogenic organizing pneumonia (MONDO:0044633) - lymphoid interstitial pneumonia - subtype of Cryptogenic organizing pneumonia (DOID:0050159) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +10 synonym(s), +10 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed SNOMED 719218000; confirmed OMOP 36714118; confirmed DOID 2797; confirmed MONDO 0015264; confirmed ORPHANET 1302; no term in OMIM @@ -8614,17 +8498,7 @@ Both UC and CD are caused by an autoimmune response that reflects the involvemen 2026-06-15 10:37 | Importer | Imported from ARI core reports 7119001 4324123 - 2026-08-18 00:06 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM - Lupus Erythematosus, Cutaneous - subacute cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015573) - chronic cutaneous lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0015574) - Systemic Lupus Erythematosus Rash - subtype of Cutaneous lupus erythematosus (NCIT:C27171) - bullous systemic lupus erythematosus - subtype of Cutaneous lupus erythematosus (MONDO:0044113) - Lupus Erythematosus Tumidus - subtype of Cutaneous lupus erythematosus (NCIT:C117112) - Rowell syndrome - subtype of Cutaneous lupus erythematosus (MONDO:0041186) - Drug Induced Cutaneous Lupus Erythematosus - subtype of Cutaneous lupus erythematosus (NCIT:C112203) - Chilblain lupus - subtype of Cutaneous lupus erythematosus (DOID:0060386) - 2026-08-18 00:06 | KrishnaTO | Enrichment from confirmed cross-references: +1 synonym(s), +8 clinical subtype(s) + 2026-08-20 16:32 | KrishnaTO | Cross-reference review: confirmed DOID 0050169; confirmed MONDO 0005282; confirmed NCI C26819; confirmed UMLS C0024137; confirmed MESH D008178; no term in OMIM @@ -14157,7 +14031,7 @@ Although this rare disease most commonly affects children, adults may have this 2024-09 MS 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-24 16:36 | aaronabend | Cross-reference review: confirmed DOID 2377; confirmed MONDO 0005301; confirmed NCI C3243; confirmed SNOMED 128460000, 426373005, 428700003, 49692006, 24700007; confirmed OMOP 374919, 4178929, 4145049, 376970, 4027727 + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed DOID 2377; confirmed MONDO 0005301; confirmed NCI C3243; confirmed SNOMED 128460000, 426373005, 428700003, 49692006, 24700007; confirmed OMOP 374919, 4178929, 4145049, 376970, 4027727 @@ -15056,7 +14930,7 @@ The specific location of vasculitis inflammation determines what tissue or organ NMO 2026-06-15 10:37 | Importer | Imported from ARI core reports 2026-08-17 18:32 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM - 2026-08-24 16:36 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM From 16dd6a23b15efba46813040284cfb3e0508e8855 Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 14:41:56 -0400 Subject: [PATCH 3/8] Update mappings/ari.equivalencies.tsv --- mappings/ari.equivalencies.tsv | 8 ++++---- 1 file changed, 4 insertions(+), 4 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index e6887ea..83781ec 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -512,10 +512,10 @@ ARI 0001019 Antisynthetase syndrome skos:exactMatch ORPHA 81 manual github:aaron ARI 0001135 Multiple sclerosis skos:exactMatch DOID 2377 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch MONDO 0005301 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch ncit C3243 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 128460000 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 426373005 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 428700003 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 49692006 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 128460000 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 426373005 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 428700003 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 49692006 manual-negative github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 24700007 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch omop 374919 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch omop 4178929 manual github:aaronabend From 0fbe3e002de815a5d4ccf7e004bac1be678a9a41 Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 14:42:05 -0400 Subject: [PATCH 4/8] Update mappings/ari.equivalencies.tsv --- mappings/ari.equivalencies.tsv | 8 ++++---- 1 file changed, 4 insertions(+), 4 deletions(-) diff --git a/mappings/ari.equivalencies.tsv b/mappings/ari.equivalencies.tsv index 83781ec..4552d58 100644 --- a/mappings/ari.equivalencies.tsv +++ b/mappings/ari.equivalencies.tsv @@ -518,8 +518,8 @@ ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 428700003 manual-negativ ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 49692006 manual-negative github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch SNOMEDCT 24700007 manual github:aaronabend ARI 0001135 Multiple sclerosis skos:exactMatch omop 374919 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch omop 4178929 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch omop 4145049 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch omop 376970 manual github:aaronabend -ARI 0001135 Multiple sclerosis skos:exactMatch omop 4027727 manual github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4178929 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4145049 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 376970 manual-negative github:aaronabend +ARI 0001135 Multiple sclerosis skos:exactMatch omop 4027727 manual-negative github:aaronabend ARI 0001028 Autoimmune encephalitis skos:exactMatch icd10cm NoTermFound manual-absent github:aaronabend From 920d420742c39eb10659601985efd59b8e0f6f7a Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 14:42:11 -0400 Subject: [PATCH 5/8] Update mappings/ari.sssom.tsv --- mappings/ari.sssom.tsv | 8 ++++---- 1 file changed, 4 insertions(+), 4 deletions(-) diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 4933ed7..506c9ec 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -532,10 +532,10 @@ ARI:0001019 Antisynthetase syndrome skos:exactMatch ORPHA:81 ORPHA semapv:Manua ARI:0001135 Multiple sclerosis skos:exactMatch DOID:2377 DOID semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch MONDO:0005301 MONDO semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch ncit:C3243 ncit semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:128460000 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:426373005 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:128460000 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:426373005 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:24700007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 From c5594561e587bfbf903fe63434fe84fd02dc0828 Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 14:42:19 -0400 Subject: [PATCH 6/8] Update mappings/ari.sssom.tsv --- mappings/ari.sssom.tsv | 8 ++++---- 1 file changed, 4 insertions(+), 4 deletions(-) diff --git a/mappings/ari.sssom.tsv b/mappings/ari.sssom.tsv index 506c9ec..3d33554 100644 --- a/mappings/ari.sssom.tsv +++ b/mappings/ari.sssom.tsv @@ -537,9 +537,9 @@ ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:426373005 SNOMEDCT s ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:428700003 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch Not SNOMEDCT:49692006 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch SNOMEDCT:24700007 SNOMEDCT semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:4145049 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 -ARI:0001135 Multiple sclerosis skos:exactMatch omop:376970 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not omop:374919 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not omop:4178929 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not omop:4145049 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 +ARI:0001135 Multiple sclerosis skos:exactMatch Not omop:376970 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001135 Multiple sclerosis skos:exactMatch omop:4027727 omop semapv:ManualMappingCuration github:aaronabend 2026-08-27 ARI:0001028 Autoimmune encephalitis skos:exactMatch sssom:NoTermFound icd10cm semapv:ManualMappingCuration github:aaronabend 2026-08-27 From feb1eddbb22826aa09287fe23ad3135b50bbbd48 Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 15:38:18 -0400 Subject: [PATCH 7/8] Update ARI_ChangeLog with confirmed OMOP ID for cross-reference review --- ontologies/ari_t1d.owl | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index 6a2257b..a076581 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -14930,7 +14930,7 @@ The specific location of vasculitis inflammation determines what tissue or organ NMO 2026-06-15 10:37 | Importer | Imported from ARI core reports 2026-08-17 18:32 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM - 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 380995; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed SNOMED 25044007; confirmed OMOP 4027727; confirmed DOID 8869; confirmed MONDO 0019100; confirmed NCI C84934; confirmed ICD10 G36.0; confirmed ORPHANET 71211; confirmed MESH D009471; no term in OMIM From 1f18f167c8855dd824388891b01169bfee4075bb Mon Sep 17 00:00:00 2001 From: Krishna Udaiwal Date: Sun, 30 Aug 2026 15:49:39 -0400 Subject: [PATCH 8/8] Refine ARI_OMOP and ARI_DXCODE entries in ari_t1d.owl for accuracy in cross-reference review --- ontologies/ari_t1d.owl | 6 +++--- 1 file changed, 3 insertions(+), 3 deletions(-) diff --git a/ontologies/ari_t1d.owl b/ontologies/ari_t1d.owl index 6719777..0974722 100644 --- a/ontologies/ari_t1d.owl +++ b/ontologies/ari_t1d.owl @@ -13999,8 +13999,8 @@ Although this rare disease most commonly affects children, adults may have this G35 D009103 C3243 - 374919, 4178929, 4145049, 376970, 4027727 - 24700007, 428700003, 426373005, 49692006, 128460000 + 4027727 + 24700007 Multiple Sclerosis (MS) is a central nervous system disease that occurs when the immune system attacks the myelin, which is a protective covering around the nerves. The nerves may then suffer permanent damage. The cause of the abnormal immune system action is unknown, but there seems to be some genetic link. The most common form of MS is relapsing-remitting which occurs when a patient has symptom-free periods, but the patient may develop a progressive form where the symptoms worsen over time. Women are affected twice as often as men. MS varies in severity, with some people losing the ability to walk. Disseminated sclerosis MS @@ -14034,7 +14034,7 @@ Although this rare disease most commonly affects children, adults may have this 2024-09 MS 2026-06-15 10:37 | Importer | Imported from ARI core reports - 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed DOID 2377; confirmed MONDO 0005301; confirmed NCI C3243; confirmed SNOMED 128460000, 426373005, 428700003, 49692006, 24700007; confirmed OMOP 374919, 4178929, 4145049, 376970, 4027727 + 2026-08-27 17:57 | aaronabend | Cross-reference review: confirmed DOID 2377; confirmed MONDO 0005301; confirmed NCI C3243; confirmed SNOMED 24700007; confirmed OMOP 4027727