Merosin-Deficient Congenital Muscular Dystrophy Type 1A

Preferred Label : Merosin-Deficient Congenital Muscular Dystrophy Type 1A;

NCIt synonyms : MDC1A;

NCIt definition : An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities.;

Details

Origin ID

C118783;

UMLS CUI

C1263858;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Merosin deficient congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy congenital, merosin negative [MeSH concept]
- Muscular dystrophy, congenital merosin-deficient, 1a [OMIM Phenotype]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]
- muscular dystrophy congenital, merosin negative [MeSH Supplementary Concept]
DO Cross reference
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Merosin deficient congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy congenital, merosin negative [MeSH concept]
- Muscular dystrophy, congenital merosin-deficient, 1a [OMIM Phenotype]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]
- muscular dystrophy congenital, merosin negative [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- LAMA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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