Muscular dystrophy, limb-girdle, type 1a

Preferred Label : Muscular dystrophy, limb-girdle, type 1a;

Obsolete resource : true;

Moved to : 609200;

Symbol : LGMD1A;

CISMeF acronym : LGMD1A; LGMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, proximal, type 1a; LGMD1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myotilin gene (ttid, 604103.0001);

Laboratory abnormalities : Increased creatine kinase (ck); Increased ck-mb;

Prefixed ID : 159000;

Détails

Origin ID

159000;

UMLS CUI

C1834659;

Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
- Limb-girdle muscular dystrophy 1A, myotilin myopathy [ICD-11 More detail]
- Muscular dystrophy, limb-girdle, type 1A [MeSH concept]
- autosomal dominant limb-girdle muscular dystrophy type 1A [DO Concept]
- limb girdle muscular dystrophy type 1a [Disease (Nov.)]
- muscular dystrophy, limb-girdle, type 1A [MeSH Supplementary Concept]
HPO term(s)
- EMG shows myopathic changes [HPO term]
- Hip girdle muscle weakness [HPO term]
ORDO concept(s)
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1A [ORDO Disease]
- Muscular dystrophy, limb-girdle, type 1A [MeSH concept]
- limb girdle muscular dystrophy type 1a [Disease (Nov.)]
- muscular dystrophy, limb-girdle, type 1A [MeSH Supplementary Concept]

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