Congenital muscular dystrophy Fukuyama type

Preferred Label : Congenital muscular dystrophy Fukuyama type;

ICD-11 definition : Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. FKTN is the only gene associated with FCMD;

Détails

Origin ID

1547688117;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 [NCIt concept]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 [OMIM Phenotype]
- fukuyama type congenital muscular dystrophy [MeSH concept]
See also inter- (CISMeF)
- fukutin [ORDO Gene]

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