Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009
SNOMED CT code
| SNOMED code | 1202024009 |
|---|---|
| name | Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation |
| status | active |
| date introduced | 2022-02-28 |
| fully specified name(s) | Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Congenital myopathy with fiber type disproportion 240084007 Congenital fiber-type disproportion myopathy due to SELENON mutation 1202023003 Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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