721838005: Familial hypertryptophanemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.
• \Familial disease (disorder)\A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tryptophan metabolism\Tryptophanaemia\A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.

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
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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402700011	A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402701010	A rare inborn error of metabolism characterised by congenital hypertryptophanaemia and hyperserotonaemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioural abnormalities, among others, have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

Expanded Value Set

Reference Sets

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

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