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 (disorder)\Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea.

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
5401952016	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401953014	Brain-lung-thyroid syndrome is a rare disorder characterised by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5786261000241110	syndrome cerveau-poumon-thyroïde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786281000241117	syndrome de choréoathétose, hypothyroïdie congénitale et détresse respiratoire du nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440801001000112	Hirn-Lunge-Schilddrüsen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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