Thyroid Stimulating Hormone Resistance

Preferred Label : Thyroid Stimulating Hormone Resistance;

NCIt related terms : TSH Resistance; TSH Unresponsiveness;

NCIt definition : Reduced response to thyroid stimulating hormone resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, associated with mutation(s) in the TSHR gene.;

Alternative definition : NICHD: Reduced response to thyroid stimulating hormone, resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, which is associated with mutation(s) in the TSHR gene.;

Details

Origin ID

C131046;

UMLS CUI

C4722488;

Automatic exact mappings (from CISMeF team)
- Familial hyperthyroidism due to mutations in TSH receptor [ORDO Disease]
- Hypothyroidism, congenital, nongoitrous, 1 [OMIM Phenotype]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- congenital nongoitrous hypothyroidism 1 [DO Concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH Supplementary Concept]
- thyroid hormone responsiveness defect [SNOMED Notion]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Hypothyroidism, congenital, nongoitrous, 1 [OMIM Phenotype]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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