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

• SNOMED CT Concept\Clinical finding\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brain lung thyroid syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3314978015	Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314979011	Brain lung thyroid syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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