719098007: choreoathetose met hypothyreoïdie en 'respiratory distress'-syndroom bij pasgeborene (aandoening)

• 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
6598001000146117	choreoathetose met hypothyroïdie en 'respiratory distress'-syndroom bij pasgeborene	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12583801000146117	choreoathetose met hypothyreoïdie en 'respiratory distress'-syndroom bij pasgeborene (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12690941000146111	choreoathetose met hypothyreoïdie en 'respiratory distress'-syndroom bij pasgeborene	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

Back to Start