Methionine Adenosyltransferase Deficiency

Preferred Label : Methionine Adenosyltransferase Deficiency;

NCIt synonyms : Hypermethioninemia, Isolated Persistent; MAT I/III Deficiency; Isolated Persistent Hypermethioninemia; MAT Deficiency;

NCIt definition : A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.;

Details

Origin ID

C123435;

UMLS CUI

C0268621;

Automatic exact mappings (from CISMeF team)
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- Hypermethioninemia [MeSH Supplementary Concept]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Brain demyelination due to methionine adenosyltransferase deficiency [ICD-11 More detail]
- Deficiency of methionine adenosyltransferase [ICD-11 More detail]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Methionine adenosyltransferase I/iii deficiency [OMIM Phenotype]
- hepatic methionine adenosyltransferase deficiency [SNOMED Notion]
- 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]
- Brain demyelination due to methionine adenosyltransferase deficiency [ICD-11 More detail]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Hypermethioninemia [HPO term]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MAT1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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