721838005: Familial hypertryptophanemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypertryptophanemia (disorder)
• \Familial disease\Familial hypertryptophanemia (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tryptophan metabolism\Tryptophanemia\Familial hypertryptophanemia (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
3326199017	Familial hypertryptophanemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326200019	Familial hypertryptophanemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326207016	Familial hypertryptophanaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326208014	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems, periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326209018	Familial hypertryptophanaemia is characterised by intellectual deficit associated with behavioural problems, periodic mood swings, exaggerated affective responses and abnormal sexual behaviour. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanaemia and tryptophanuria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3907331000052113	familjär hypertryptofanemi	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

This concept is not in any reference sets

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