Familial Dysalbuminemic Hyperthyroidism

Preferred Label : Familial Dysalbuminemic Hyperthyroidism;

NCIt related terms : Familial Dysalbuminemic Hyperthyroxinemia;

Alternative definition : NICHD: A genetic condition caused by a variant in the ALB gene, associated with increased affinity of albumin for thyroxine.;

Details

Origin ID

C131813;

UMLS CUI

C0342185;

Currated CISMeF NLP mapping
- Familial dysalbuminemic hyperthyroxinemia [ORDO Disease]
- Familial dysalbuminemic hyperthyroxinemia [PASCAL descriptor]
- Familial dysalbuminemic hyperthyroxinemia (disorder) [SNOMED CT concept]
- Hyperthyroxinemia, familial dysalbuminemic [OMIM Phenotype]
- familial dysalbuminaemic hyperthyroxinaemia [Disease (Nov.)]
- hyperthyroxinemia, familial dysalbuminemic [MeSH concept]
- hyperthyroxinemia, familial dysalbuminemic [MeSH Descriptor]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial dysalbuminemic hyperthyroxinemia [ORDO Disease]
- Familial dysalbuminemic hyperthyroxinemia [PASCAL descriptor]
- Familial dysalbuminemic hyperthyroxinemia (disorder) [SNOMED CT concept]
- Hyperthyroxinemia, familial dysalbuminemic [OMIM Phenotype]
- familial dysalbuminaemic hyperthyroxinaemia [Disease (Nov.)]
- hyperthyroxinemia, familial dysalbuminemic [MeSH Descriptor]
- hyperthyroxinemia, familial dysalbuminemic [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]

Keyword's position in hierarchy(ies) :

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