721838005: Familial hypertryptophanemia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypertryptophanaemia
• \Familial disease\Familial hypertryptophanaemia
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tryptophan metabolism\Tryptophanaemia\Familial hypertryptophanaemia

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3326200019	Familial hypertryptophanemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3326207016	Familial hypertryptophanaemia	en	Synonym	Active	Case insensitive	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	Case sensitive	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	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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