Amish nemaline myopathy

Preferred Label : Amish nemaline myopathy;

ICD-11 definition : Amish nemaline myopathy is a type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age. Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency.;

Détails

Origin ID

46578428;

UMLS CUI

C1854380;

Currated CISMeF NLP mapping
- Amish nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5 [MeSH concept]
- Nemaline myopathy 5a, autosomal recessive, severe infantile [OMIM Phenotype]
- nemaline myopathy 5 [MeSH Supplementary Concept]
- nemaline myopathy 5 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5 [MeSH concept]
- Nemaline myopathy 5a, autosomal recessive, severe infantile [OMIM Phenotype]
- nemaline myopathy 5 [DO Concept]
- nemaline myopathy 5 [MeSH Supplementary Concept]

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

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