Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 1172684002
SNOMED CT code
| SNOMED code | 1172684002 |
|---|---|
| name | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) |
| synonyms |
|
| attributes - group2 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Finding site | Peripheral nerve structure 84782009 |
| attributes - group1 | |
| Finding site | Nerve structure 3057000 |
| Associated morphology | Atrophy 13331008 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Charcot-Marie-Tooth disease, type II 398187000 Autosomal dominant Charcot-Marie-Tooth disease type 2 1156835005 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 1172684002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 1172684002 SNOMED CT Concept 138875005 Clinical finding 404684003 General finding of soft tissue 248402002 Disorder of soft tissue 19660004 Peripheral nerve disease 302226006 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 1172684002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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