X-linked muscular dystrophy with abnormal dystrophin 240048000

SNOMED CT code

SNOMED code

240048000

name

X-linked muscular dystrophy with abnormal dystrophin

status

active

date introduced

2002-01-31

fully specified name(s)

X-linked muscular dystrophy with abnormal dystrophin (disorder)

synonyms

X-linked muscular dystrophy with abnormal dystrophin
Meryon muscular dystrophy
Xp21-linked muscular dystrophy

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Dystrophy 4720007

Finding site

Skeletal muscle structure 127954009

attributes - group2

Clinical course

Progressive 255314001

parents

X-linked muscular dystrophy with limb girdle distribution 240047005

children

Becker muscular dystrophy 387732009
Duchenne muscular dystrophy 76670001
Intermediate X-linked muscular dystrophy 240049008
Manifesting female carrier of X-linked muscular dystrophy 240050008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
X-linked muscular dystrophy with limb girdle distribution 240047005
X-linked muscular dystrophy with abnormal dystrophin 240048000

ancestors

sorted most to least specific

X-linked muscular dystrophy with limb girdle distribution 240047005
Congenital hereditary muscular dystrophy 111501005
X-linked hereditary disease 128430005
Muscular dystrophy with predominantly proximal limb girdle distribution 240046001
Hereditary progressive muscular dystrophy 193225000
Sex-linked hereditary disorder 82852009
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked muscular dystrophy with limb girdle distribution 240047005

X-linked muscular dystrophy with abnormal dystrophin 240048000

SNOMED CT code