Brain demyelination due to methionine adenosyltransferase deficiency

Preferred Label : Brain demyelination due to methionine adenosyltransferase deficiency;

ICD-11 definition : This refers to any disease of the nervous system in which the myelin sheath of neurons is damaged. This diagnosis is due to methionine adenosyltransferase deficiency.;

ICD-11 synonym : MAT I/III - [Methionine adenosyltransferase I/III deficiency] deficiency; MAT I/III deficiency; Isolated persistent hypermethioninaemia; Methionine adenosyltransferase I/III deficiency;

Details

Origin ID

530628531;

UMLS CUI

C0268621;

Currated CISMeF NLP mapping
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- Methionine adenosyltransferase I/iii deficiency [OMIM Phenotype]
- methionine adenosyltransferase deficiency [MeSH concept]
See also inter- (CISMeF)
- Hypermethioninemia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Hypermethioninemia [HPO term]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- Methionine adenosyltransferase I/iii deficiency [OMIM Phenotype]
- hepatic methionine adenosyltransferase deficiency [SNOMED Notion]
- hypermethioninemia [MeSH concept]
- hypermethioninemia, nos [SNOMED Notion]
- methionine adenosyltransferase deficiency [MeSH concept]
Validated automatic mappings to BTNT
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- hepatic methionine adenosyltransferase deficiency [SNOMED Notion]

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