methylene thf reductase deficiency and homocystinuria - CISMeF

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CISMeF

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Methylene thf reductase deficiency and homocystinuriaSNOMED Notion

Preferred Label : methylene thf reductase deficiency and homocystinuria;

Details

Origin ID

D6-B3130;

UMLS CUI

C0268610;

Currated CISMeF NLP mapping
- Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity [OMIM Phenotype]
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
- Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other specified disorders of amino-acid metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- 5-methyltetrahydrofolate-homocysteine methyltransferase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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18/05/2024

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