Mitochondrial myopathy, lethal, infantile

Preferred Label : Mitochondrial myopathy, lethal, infantile;

Symbol : LIMM;

CISMeF acronym : LIMM;

Type : Phenotype, molecular basis known;

Inheritance : Mitochondrial;

Laboratory abnormalities : Mutant mtDNA threonine transfer RNA gene (MTTT, 590090) of questionable etiology; Variable respiratory chain enzyme deficiency;

Prefixed ID : #551000;

Détails

Origin ID

551000;

UMLS CUI

C1838876;

Currated CISMeF NLP mapping
- Lethal infantile mitochondrial myopathy [ICD-11 More detail]
- Lethal infantile mitochondrial myopathy [HPO term]
- Lethal infantile mitochondrial myopathy [ORDO Disease]
- Lethal infantile mitochondrial myopathy (disorder) [SNOMED CT concept]
- myopathy, mitochondrial, lethal infantile [MeSH Supplementary Concept]
- myopathy, mitochondrial, lethal infantile [MeSH concept]
HPO term(s)
- Lactic acidosis [HPO term]
- Lethal infantile mitochondrial myopathy [HPO term]
- Mitochondrial inheritance [HPO term]
- Myopathy [HPO term]
ORDO concept(s)
- Lethal infantile mitochondrial myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal infantile mitochondrial myopathy [HPO term]
- Lethal infantile mitochondrial myopathy [ORDO Disease]
- Lethal infantile mitochondrial myopathy (disorder) [SNOMED CT concept]
- myopathy, mitochondrial, lethal infantile [MeSH Supplementary Concept]
- myopathy, mitochondrial, lethal infantile [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients