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237559000: Thyroid hormone resistance syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356014015 Thyroid hormone resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626306013 Thyroid hormone resistance syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3010290018 Thyroid hormone resistance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5460201014 Resistance to thyroid hormone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5460217015 Resistance to TH (thyroid hormone) syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5460233017 RTH (resistance to thyroid hormone) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5018881000241119 syndrome de résistance hormonale thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thyroid hormone resistance syndrome (disorder) Is a Thyroid hormone responsiveness defect true Inferred relationship Some
Thyroid hormone resistance syndrome (disorder) Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Thyroid hormone resistance syndrome (disorder) Finding site Thyroid structure false Inferred relationship Some
Thyroid hormone resistance syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Thyroid hormone resistance syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Thyroid hormone resistance syndrome (disorder) Finding site Thyroid structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Generalized thyroid hormone resistance Is a False Thyroid hormone resistance syndrome (disorder) Inferred relationship Some
Pituitary thyroid hormone resistance Is a True Thyroid hormone resistance syndrome (disorder) Inferred relationship Some
Thyrotoxicosis due to pituitary thyroid hormone resistance Is a True Thyroid hormone resistance syndrome (disorder) Inferred relationship Some
A rare primary congenital hypothyroidism characterised by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms. Is a True Thyroid hormone resistance syndrome (disorder) Inferred relationship Some
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. Is a True Thyroid hormone resistance syndrome (disorder) Inferred relationship Some
Peripheral resistance to thyroid hormone (disorder) Is a True Thyroid hormone resistance syndrome (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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