thiopurine S methyltranferase deficiency

Preferred Label : thiopurine S methyltranferase deficiency;

MeSH note : An increased sensitivity to 6-Mercaptopurine due to mutations in thiopurine methyltransferase that results in decreased enzyme activity.;

CISMeF synonym : 6 alpha mercaptopurine sensitivity;

MeSH synonym : TPMT deficiency; thiopurine methyltransferase deficiency; thiopurine S-Methyltransferase deficiency;

MeSH hyponym : Thiopurines, poor metabolism of;

Details

Origin ID

C536512;

UMLS CUI

C0342801;

Automatic exact mappings (from CISMeF team)
- Thiopurine S-methyltransferase deficiency [ICD-11 More detail]
- Thiopurines, poor metabolism of [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Thiopurine Methyltransferase Deficiency [NCIt concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Thiopurines, poor metabolism of, 1 [OMIM Phenotype]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- drug hypersensitivity [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 6 alpha mercaptopurine sensitivity [MeSH concept]
- Thiopurine S methyltranferase deficiency [MeSH concept]
See also (suggested by CISMeF)
- thiopurine methyltransferase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thiopurine Methyltransferase Deficiency [NCIt concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Thiopurines, poor metabolism of, 1 [OMIM Phenotype]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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