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725462002: Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3443236017 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443237014 Resistance to thyrotropin-releasing hormone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443238016 TRH (thyrotropin-releasing hormone) resistance syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443240014 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403480018 Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403481019 Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443236017 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443237014 Resistance to thyrotropin-releasing hormone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443238016 TRH (thyrotropin-releasing hormone) resistance syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443240014 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443239012 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403480018 Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403481019 Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454331001000117 Thyrotropin-Releasing-Hormon (TRH)-Resistenz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916191000241117 hypothyroïdie centrale congénitale due à un déficit du récepteur de la TRH (thyrotropin-releasing hormone) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916201000241115 syndrome de résistance à la thyréolibérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916211000241118 hypothyroïdie congénitale centrale due à un déficit du récepteur de l'hormone thyréotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916191000241117 hypothyroïdie centrale congénitale due à un déficit du récepteur de la TRH (thyrotropin-releasing hormone) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916201000241115 syndrome de résistance à la thyréolibérine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916211000241118 hypothyroïdie congénitale centrale due à un déficit du récepteur de l'hormone thyréotrope fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454331001000117 Thyrotropin-Releasing-Hormon (TRH)-Resistenz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Due to Pituitary thyroid hormone resistance true Inferred relationship Existential restriction modifier (core metadata concept) 1
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Is a Congenital central hypothyroidism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterised by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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