Thyroid Hormone Resistance Syndrome

Preferred Label : Thyroid Hormone Resistance Syndrome;

NCIt related terms : Thyroid Hormone Resistance;

NCIt definition : A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.;

Alternative definition : NICHD: Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland.;

Details

Origin ID

C85191;

UMLS CUI

C2940786;

Automatic exact mappings (from CISMeF team)
- Impaired sensitivity to thyroid hormone [HPO term]
Currated CISMeF NLP mapping
- Thyroid hormone resistance [HPO term]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- thyroid hormone resistance syndrome [DO Concept]
- thyroid hormone resistance syndrome [Disease (Nov.)]
- thyroid hormone resistance syndrome [MeSH Descriptor]
- thyroid hormone resistance syndrome [MeSH concept]
DO Cross reference
- thyroid hormone resistance syndrome [DO Concept]
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)
- Generalised resistance to thyroid hormone [MedDRA Preferred Term]
- Generalized resistance to thyroid hormone [MedDRA LLT]
- Generalized thyroid hormone resistance (disorder) [SNOMED CT concept]
- Impaired sensitivity to thyroid hormone [HPO term]
- Refetoff syndrome (disorder) [SNOMED CT concept]
- Resistance to thyroid hormone [MedDRA Preferred Term]
- Thyroid hormone resistance [HPO term]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- refetoff syndrome [SNOMED Notion]
- thyroid hormone resistance syndrome [MeSH concept]
- thyroid hormone resistance syndrome [MeSH Descriptor]
- thyroid hormone resistance syndrome [DO Concept]
- thyroid hormone resistance syndrome [Disease (Nov.)]
- thyroid hormone responsiveness defect [SNOMED Notion]
Validated automatic mappings to BTNT
- Generalized thyroid hormone resistance (disorder) [SNOMED CT concept]
- Thyroid hormone resistance, generalized, autosomal recessive [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]
disease_mapped_to_gene
- THRB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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