cystathionine beta-synthase deficiency - CISMeF

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CISMeF

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Cystathionine beta-synthase deficiencySNOMED Notion

Preferred Label : cystathionine beta-synthase deficiency;

Details

Origin ID

D6-B4110;

UMLS CUI

C0751202;

Currated CISMeF NLP mapping
- Classic homocystinuria [ORDO Disease]
- Classical homocystinuria [ICD-11 More detail]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria due to cystathionine beta-synthase deficiency [OMIM Phenotype]
- cystathionine beta synthase deficiency [Disease (Nov.)]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- homocystinuria [MeSH Descriptor]
ICD-10 exact mapping(s)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
- Lens position anomaly [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- cystathionine beta-synthase [SNOMED Notion]
SNOMED CT concept
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic homocystinuria [ORDO Disease]
- Classical homocystinuria [ICD-11 More detail]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria due to cystathionine beta-synthase deficiency [OMIM Phenotype]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
Validated automatic mappings to NTBT
- homocystinuria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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18/05/2024

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