Ethylmalonic encephalopathy

Preferred Label : Ethylmalonic encephalopathy;

ICD-11 definition : Ethylmalonic acid encephalopathy is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.;

Details

Origin ID

1966714550;

UMLS CUI

C1865349;

Currated CISMeF NLP mapping
- Encephalopathy, ethylmalonic [OMIM Phenotype]
- Ethylmalonic encephalopathy [MeSH concept]
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [DO Concept]
- ethylmalonic encephalopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy, ethylmalonic [OMIM Phenotype]
- Ethylmalonic encephalopathy [MeSH concept]
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [DO Concept]
- ethylmalonic encephalopathy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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