1260240000: Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha

\Disease\Genetic disease\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Primary hypothyroidism\Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5159866019 Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5159867011 Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5159868018 Resistance to thyroid hormone alpha en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5159869014 Resistance to thyroid hormone due to mutation in TRa en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5400439014 A rare primary congenital hypothyroidism characterized 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400440011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Is a	Primary hypothyroidism	true	Inferred relationship	Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Occurrence	Congenital	true	Inferred relationship	Some	1
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Finding site	Thyroid structure	true	Inferred relationship	Some	1
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5159866019	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159867011	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159868018	Resistance to thyroid hormone alpha	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159869014	Resistance to thyroid hormone due to mutation in TRa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400439014	A rare primary congenital hypothyroidism characterized 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400440011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core