Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208414002
SNOMED CT code
| SNOMED code | 1208414002 |
|---|---|
| name | Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Congenital myopathy with fiber type disproportion 240084007 Congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208413008 Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208414002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208414002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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