717181004: Hyperprolinemia type 2 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperprolinaemia type 2
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperprolinaemia\Hyperprolinaemia type 2
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Hyperprolinaemia\Hyperprolinaemia type 2
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperprolinaemia\Hyperprolinaemia type 2

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308600014	Hyperprolinemia type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308601013	Hyperprolinemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3308602018	Hyperprolinaemia type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3308603011	Hyperprolinemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308604017	Hyperprolinaemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308605016	An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.	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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