717181004: hyperprolinemie type 2 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperprolinemia type 2 (disorder)

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperprolinemia\Hyperprolinemia type 2 (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism\Hyperprolinemia\Hyperprolinemia type 2 (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperprolinemia\Hyperprolinemia type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3308601013 Hyperprolinemia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308602018 Hyperprolinaemia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308603011 Hyperprolinemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308604017 Hyperprolinaemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6038521000146113 hyperprolinemie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6038531000146110 hyperprolinemie type 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperprolinemia type 2 (disorder)	Due to	Deficiency of pyrroline-5-carboxylate reductase	true	Inferred relationship	Some	1
Hyperprolinemia type 2 (disorder)	Is a	Hyperprolinemia	true	Inferred relationship	Some
Hyperprolinemia type 2 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperprolinemia type 2 (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets