thyroid hormone resistance syndrome

Preferred Label : thyroid hormone resistance syndrome;

MeSH definition : An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.;

MeSH synonym : refetoff dewind degroot syndrome; syndrome, refetoff-dewind-degroot; refetoff syndrome; syndrome, refetoff; refetoff-dewind-degroot syndrome;

CISMeF synonym : generalized resistance to thyroid hormone;

Related MeSH term : Thyroid Hormone Resistance; Hormone Resistance, Thyroid; Resistance, Thyroid Hormone; Generalized Thyroid Hormone Resistance;

MeSH annotation : differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present;

Wikipedia link : https://en.wikipedia.org/wiki/Thyroid hormone resistance;

Details

Origin ID

D018382;

UMLS CUI

C2940786;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Impaired sensitivity to thyroid hormone [HPO term]
- thyroid hormone receptor beta [ORDO Gene]
- thyroid hormone receptor beta [HGNC gene]
Currated CISMeF NLP mapping
- Generalised resistance to thyroid hormone [ICD-11 Category]
- Generalized Thyroid Hormone Resistance [NCIt concept]
- Generalized resistance to thyroid hormone [ORDO Disease]
- Thyroid Hormone Resistance Syndrome [NCIt concept]
- 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 [DO Concept]
- thyroid hormone resistance syndrome [Disease (Nov.)]
DO Cross reference
- thyroid hormone resistance syndrome [DO Concept]
HPO term
- Impaired sensitivity to thyroid hormone [HPO term]
Manual BTNT mappings - CISMeF
- Generalised resistance to thyroid hormone [MedDRA Preferred Term]
- Generalized resistance to thyroid hormone [MedDRA LLT]
- Resistance to thyrotropin-releasing hormone syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare hyperthyroidism [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
Record concept(s)
- Generalized Resistance to Thyroid Hormone [MeSH concept]
- thyroid hormone resistance syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- thyroid hormone resistance, generalized, autosomal dominant [MeSH Supplementary Concept]
- thyroid hormone resistance, generalized, autosomal recessive [MeSH Supplementary Concept]
See also
- euthyroid sick syndromes [MeSH Descriptor]
- receptors, thyroid hormone [MeSH Descriptor]
See also (suggested by CISMeF)
- thyroid hormones [MeSH Descriptor]
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 Syndrome [NCIt concept]
- 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 [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]
- Refetoff syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone resistance, generalized, autosomal recessive [OMIM Phenotype]

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