muscular dystrophy congenital, merosin negative

Preferred Label : muscular dystrophy congenital, merosin negative;

MeSH note : mutation in LAMA2;

MeSH synonym : merosin-deficient congenital muscular dystrophy; muscular dystrophy, congenital, merosin-deficient 1A; merosin-negative congenital muscular dystrophy; muscular dystrophy, congenital Merosin-Deficient, 1A; muscular dystrophy, congenital Merosin-Deficient;

Details

Origin ID

C537384;

UMLS CUI

C1263858;

Automatic exact mappings (from CISMeF team)
- Merosin or laminin alpha 2 chain deficiency [ICD-11 More detail]
CISMeF manual mappings
- Merosin deficient congenital muscular dystrophy (disorder) [SNOMED CT concept]
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 Type 1A [NCIt concept]
- Muscular dystrophy, congenital merosin-deficient, 1a [OMIM Phenotype]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]
DO Cross reference
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- Muscular dystrophy congenital, merosin negative [MeSH concept]
See also (suggested by CISMeF)
- laminin [MeSH Descriptor]
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]
- Merosin-Deficient Congenital Muscular Dystrophy Type 1A [NCIt concept]
- Muscular dystrophy, congenital merosin-deficient, 1a [OMIM Phenotype]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]

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