Ullrich Congenital Muscular Dystrophy

Preferred Label : Ullrich Congenital Muscular Dystrophy;

NCIt synonyms : Scleroatonic Ullrich Disease; UCMD;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.;

Détails

Origin ID

C123438;

UMLS CUI

C0410179;

Automatic exact mappings (from CISMeF team)
- Ullrich congenital muscular dystrophy [ICD-11 More detail]
- Ullrich congenital muscular dystrophy [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy, Ullrich type [ORDO Disease]
- Scleroatonic muscular dystrophy [MeSH concept]
- Ullrich congenital muscular dystrophy [PASCAL descriptor]
- Ullrich congenital muscular dystrophy [DO Concept]
- Ullrich congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Ullrich congenital muscular dystrophy 1a [OMIM Phenotype]
- scleroatonic muscular dystrophy [MeSH Supplementary 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)
- Congenital muscular dystrophy, Ullrich type [ORDO Disease]
- Scleroatonic muscular dystrophy [MeSH concept]
- Ullrich congenital muscular dystrophy 1a [OMIM Phenotype]
- scleroatonic muscular dystrophy [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [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]
disease_mapped_to_gene
- COL6A1 Gene [NCIt concept]
- COL6A2 Gene [NCIt concept]
- COL6A3 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients