Hyperhomocysteinemia

Preferred Label : Hyperhomocysteinemia;

NCIt definition : A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.;

Alternative definition : NICHD: Abnormally high level of homocysteine in the blood.;

Details

Origin ID

C84770;

UMLS CUI

C0598608;

Automatic exact mappings (from CISMeF team)
- Hyperhomocysteinemia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hyperhomocysteinaemia [ICD-11 Sub-sub category]
- Hyperhomocysteinaemia [MedDRA Preferred Term]
- Hyperhomocysteinemia [PASCAL descriptor]
- Hyperhomocysteinemia [MedDRA LLT]
- Hyperhomocysteinemia (disorder) [SNOMED CT concept]
- hyperhomocysteinemia [Disease (Nov.)]
- hyperhomocysteinemia [DO Concept]
- hyperhomocysteinemia [MeSH Descriptor]
- hyperhomocysteinemia [MeSH concept]
DO Cross reference
- hyperhomocysteinemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperhomocysteinaemia [MedDRA Preferred Term]
- Hyperhomocysteinemia [MedDRA LLT]
- Hyperhomocysteinemia [PASCAL descriptor]
- Hyperhomocysteinemia [OMIM Phenotype]
- Hyperhomocysteinemia (disorder) [SNOMED CT concept]
- hyperhomocysteinemia [DO Concept]
- hyperhomocysteinemia [Disease (Nov.)]
- hyperhomocysteinemia [MeSH concept]
- hyperhomocysteinemia [MeSH Descriptor]
Validated automatic mappings to NTBT
- Hyperhomocysteinemia [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MTHFR Gene [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) :

You can consult :

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