Limb-Girdle Muscular Dystrophy

Preferred Label : Limb-Girdle Muscular Dystrophy;

NCIt related terms : Limb girdle dystrophy;

NCIt definition : A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.;

Alternative definition : ACC/AHA: A group of muscular dystrophies due to mutations in a variety of genes, predominantly affecting the proximal muscles of the arms and legs.;

Détails

Origin ID

C84828;

UMLS CUI

C0686353;

Currated CISMeF NLP mapping
- Limb girdle muscular dystrophy [PASCAL descriptor]
- Limb-girdle muscular dystrophy [ICD-11 Subcategory]
- Limb-girdle muscular dystrophy [HPO term]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) [SNOMED CT concept]
- limb girdle muscular dystrophy [Disease (Nov.)]
- limb-girdle muscular dystrophy [DO Concept]
- limb-girdle muscular dystrophy [SNOMED Notion]
- muscular dystrophies, Limb-Girdle [MeSH concept]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
DO Cross reference
- limb-girdle muscular dystrophy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Limb girdle muscular dystrophy [PASCAL descriptor]
- Limb-girdle muscular dystrophy [ORDO Disease]
- Limb-girdle muscular dystrophy [HPO term]
- Limb-girdle muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy with predominantly proximal limb girdle distribution (disorder) [SNOMED CT concept]
- limb girdle muscular dystrophy [Disease (Nov.)]
- limb-girdle muscular dystrophy [DO Concept]
- limb-girdle muscular dystrophy [SNOMED Notion]
- muscular dystrophies, Limb-Girdle [MeSH concept]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Validated automatic mappings to NTBT
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy [ICD-10 Sub-category]
associated_with_malfunction_of_gene_product
- Dysferlin [NCIt concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_associated_gene
- DYSF Gene [NCIt concept]
- DYSF wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]

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