Autosomal recessive limb girdle muscular dystrophy type 2B 718179003

SNOMED CT code

SNOMED code

718179003

name

Autosomal recessive limb girdle muscular dystrophy type 2B

status

active

date introduced

2016-07-31

fully specified name(s)

Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)

synonyms

Autosomal recessive limb girdle muscular dystrophy type 2B
Limb girdle muscular dystrophy due to dysferlin deficiency

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Dystrophy 4720007

Finding site

Skeletal muscle structure 127954009

attributes - group2

Clinical course

Progressive 255314001

parents

Autosomal recessive muscular dystrophy with limb girdle distribution 240054004

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 recessive hereditary disorder 85995004
Autosomal recessive muscular dystrophy with limb girdle distribution 240054004
Autosomal recessive limb girdle muscular dystrophy type 2B 718179003

ancestors

sorted most to least specific

Autosomal recessive muscular dystrophy with limb girdle distribution 240054004
Muscular dystrophy with predominantly proximal limb girdle distribution 240046001
Autosomal recessive hereditary disorder 85995004
Hereditary progressive muscular dystrophy 193225000
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Muscular dystrophy 73297009
Hereditary disorder by system 363137000
Chronic disease of musculoskeletal system 128237006
Developmental disorder 5294002
Degenerative disorder of muscle 363058009
Degenerative disorder of musculoskeletal system 363059001
Disorder of skeletal muscle 75047002
Hereditary disease 32895009
Chronic disease 27624003
Disorder of musculoskeletal system 928000
Disorder of muscle 129565002
Degenerative disorder 362975008
Disorder of soft tissue 19660004
Genetic disease 782964007
Musculoskeletal finding 106028002
Disorder of body system 362965005
Muscle finding 106030000
General finding of soft tissue 248402002
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 recessive hereditary disorder 85995004

Autosomal recessive muscular dystrophy with limb girdle distribution 240054004

Autosomal recessive limb girdle muscular dystrophy type 2B 718179003

SNOMED CT code