Homocystinuria

Preferred Label : Homocystinuria;

NCIt definition : An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.;

Details

Origin ID

C84765;

UMLS CUI

C0019880;

Automatic exact mappings (from CISMeF team)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category]
- Homocystinuria [ACR pathology]
- Homocystinuria [ACR pathology]
- Homocystinuria [ACR pathology]
Currated CISMeF NLP mapping
- Classic homocystinuria [ORDO Disease]
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [HPO term]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [DO Concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria [MeSH Descriptor]
- homocystinuria [MeSH concept]
- homocystinuria, nos [SNOMED Notion]
DO Cross reference
- homocystinuria [DO Concept]
See also inter- (CISMeF)
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Homocystinuria [HPO term]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [DO Concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria [MeSH Descriptor]
- homocystinuria [MeSH concept]
- homocystinuria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Classical homocystinuria [ICD-11 More detail]
- cystathionine beta synthase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- CBS Gene [NCIt concept]
- MTHFR Gene [NCIt concept]
- MTR Gene [NCIt concept]
- MTRR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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