Congenital muscular dystrophy type 1A 787037000

SNOMED CT code

SNOMED code

787037000

name

Congenital muscular dystrophy type 1A

status

active

date introduced

2019-07-31

fully specified name(s)

Congenital muscular dystrophy type 1A (disorder)

synonyms

Merosin-negative congenital muscular dystrophy
Congenital muscular dystrophy type 1A
CMD1A - congenital muscular dystrophy type 1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
MCD1A - muscular congenital dystrophy type 1A

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Skeletal muscle structure 127954009

Associated morphology

Dystrophy 4720007

attributes - group2

Clinical course

Progressive 255314001

parents

Congenital hereditary muscular dystrophy 111501005
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Muscle finding 106030000
Disorder of muscle 129565002
Disorder of skeletal muscle 75047002
Congenital anomaly of skeletal muscle 89886004
Congenital hereditary muscular dystrophy 111501005
Congenital muscular dystrophy type 1A 787037000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Congenital muscular dystrophy type 1A 787037000

ancestors

sorted most to least specific

Congenital hereditary muscular dystrophy 111501005
Autosomal recessive hereditary disorder 85995004
Hereditary progressive muscular dystrophy 193225000
Autosomal hereditary disorder 1899006
Congenital anomaly of skeletal muscle 89886004
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Muscular dystrophy 73297009
Congenital anomaly of muscle AND/OR tendon 79191007
Disorder of skeletal muscle 75047002
Hereditary disorder by system 363137000
Chronic disease of musculoskeletal system 128237006
Congenital anomaly of musculoskeletal system 73573004
Degenerative disorder of muscle 363058009
Degenerative disorder of musculoskeletal system 363059001
Hereditary disease 32895009
Disorder of muscle 129565002
Chronic disease 27624003
Congenital malformation 276654001
Disorder of soft tissue 19660004
Disorder of musculoskeletal system 928000
Degenerative disorder 362975008
Genetic disease 782964007
Muscle finding 106030000
Developmental disorder 5294002
General finding of soft tissue 248402002
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

Muscle finding 106030000

Disorder of muscle 129565002

Disorder of skeletal muscle 75047002

Congenital anomaly of skeletal muscle 89886004

Congenital hereditary muscular dystrophy 111501005

Congenital muscular dystrophy type 1A 787037000

SNOMED CT code