Scapuloperoneal myopathy, myh7-related

Preferred Label : Scapuloperoneal myopathy, myh7-related;

Obsolete resource : true;

Moved to : 608358;

Symbol : SPMM;

CISMeF acronym : SPMD; SPMM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPMD; Scapuloperoneal muscular dystrophy; Scapuloperoneal syndrome, myopathic type;

Inheritance : Autosomal dominant;

Prefixed ID : 181430;

Details

Origin ID

181430;

UMLS CUI

C4759774;

Automatic exact mappings (from CISMeF team)
- MYH7-related late-onset scapuloperoneal muscular dystrophy [ORDO Disease]
- Muscular dystrophy [ICD-10 Sub-category]
- Scapuloperoneal muscular dystrophy [ICD-11 Subcategory]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
- scapuloperoneal myopathy [MeSH Supplementary Concept]
DO Cross reference
- scapuloperoneal myopathy [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Myopathy [HPO term]
- Scapuloperoneal myopathy [HPO term]
- Slowly progressive [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- MYH7-related late-onset scapuloperoneal muscular dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- Scapuloperoneal myopathy [MeSH concept]
- X-Linked Emery-Dreifuss muscular dystrophy [MeSH concept]
- scapuloperoneal myopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- X-Linked Emery-Dreifuss muscular dystrophy [MeSH concept]
- X-linked Emery-Dreifuss muscular dystrophy [ORDO Disease]
Validated automatic mappings to NTBT
- scapuloperoneal myopathy [DO Concept]

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