FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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

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
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
5159870010 A rare primary congenital hypothyroidism with characteristics of 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, 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
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

0 descendants.

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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a Disorder with characteristics of high serum thyroid-stimulating hormone (TSH) concentration and a low serum free thyroxine (T4) concentration. true Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start