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719098007: Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3314977013 Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314978015 Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314979011 Brain lung thyroid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314980014 A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3899331000052111 hjärn-lung-sköldkörtelsyndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3314977013	Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314978015	Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314979011	Brain lung thyroid syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314980014	A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3899331000052111	hjärn-lung-sköldkörtelsyndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)