Z-band alternatively spliced PDZ motif containing-protein myopathy

Preferred Label : Z-band alternatively spliced PDZ motif containing-protein myopathy;

ICD-11 definition : Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy.;

ICD-11 synonym : ZASP - [Z-band alternatively spliced PDZ motif containing-protein myopathy]; Zaspopathy;

ICD-11 acronym : ZASP;

Détails

Origin ID

1287541405;

Automatic exact mappings (from CISMeF team)
- LIM domain binding 3 [ORDO Gene]
- Lim domain-binding 3 [OMIM gene]
- Zo2-associated speckle protein [OMIM gene]
- benzyloxycarbonyl-asparagine [MeSH Supplementary Concept]
CISMeF manual mappings
- Late-onset distal myopathy Markesbery Griggs type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Late-onset distal myopathy, Markesbery-Griggs type [ORDO Disease]
- myopathy, myofibrillar, Zasp-Related [MeSH concept]
- myopathy, myofibrillar, Zasp-Related [MeSH Supplementary Concept]
- tibial muscular dystrophy, tardive [MeSH concept]
See also inter- (CISMeF)
- myofibrillar myopathy 4 [DO Concept]

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

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