ethylmalonic encephalopathy

Preferred Label : ethylmalonic encephalopathy;

MeSH note : clinical heterogeneity exists; early-onset encephalopathy, developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea, microangiopathy, and ethylmalonic acid in urine; see ETHE1 protein, human (C483228);

MeSH synonym : syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; encephalopathy, ethylmalonic; encephalopathy, petechiae, and ethylmalonic aciduria; epema syndrome;

Détails

Origin ID

C535737;

UMLS CUI

C1865349;

Currated CISMeF NLP mapping
- Encephalopathy, ethylmalonic [OMIM Phenotype]
- Ethylmalonic encephalopathy [ICD-11 More detail]
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [DO Concept]
DO Cross reference
- ethylmalonic encephalopathy [DO Concept]
MeSH term(s) associated for indexing
- brain diseases, metabolic, inborn [MeSH Descriptor]
- purpura [MeSH Descriptor]
ORDO relation(s)
- Ethylmalonic encephalopathy [ORDO Disease]
Record concept(s)
- Ethylmalonic encephalopathy [MeSH concept]
See also (suggested by CISMeF)
- ethylmalonic acid [MeSH Supplementary Concept]
See also inter- (CISMeF)
- ethylmalonic aciduria [CISMeF Querying Strategy]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy, ethylmalonic [OMIM Phenotype]
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy [ICD-11 More detail]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [DO Concept]

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