Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208415001

SNOMED CT code

SNOMED code

1208415001

name

Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation

status

active

date introduced

2022-03-31

fully specified name(s)

Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)

synonyms

Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation
Autosomal dominant congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation
Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation

attributes - group1

Occurrence

Congenital 255399007

Finding site

Skeletal muscle structure 127954009

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

parents

Autosomal dominant hereditary disorder 11164009
Congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208413008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical 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 ACTA1 mutation 1208415001

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 ACTA1 mutation 1208413008
Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208415001

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208413008
Autosomal hereditary disorder 1899006
Congenital myopathy with fiber type disproportion 240084007
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Myopathy with abnormality of histochemical fiber type 240082006
Hereditary disorder by system 363137000
Hereditary disease 32895009
Congenital anomaly of skeletal muscle 89886004
Genetic disease 782964007
Disorder of skeletal muscle 75047002
Congenital anomaly of muscle AND/OR tendon 79191007
Disorder of muscle 129565002
Congenital anomaly of musculoskeletal system 73573004
Disorder of soft tissue 19660004
Muscle finding 106030000
Congenital malformation 276654001
General finding of soft tissue 248402002
Disorder of musculoskeletal system 928000
Developmental disorder 5294002
Musculoskeletal finding 106028002
Disorder of body system 362965005
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical 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 ACTA1 mutation 1208415001

SNOMED CT code