59655002: Hyperprolinemia (disorder)

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

\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hyperprolinemia

\Disorder of proline AND/OR hydroxyproline metabolism\Hyperprolinemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperprolinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

99113018 Hyperprolinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

498506015 Hyperprolinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

798521019 Hyperprolinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

50008071000188115 hyperprolinémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperprolinemia	Is a	Aminoacidemia	true	Inferred relationship	Some
Hyperprolinemia	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some
Hyperprolinemia	Occurrence	Congenital	false	Inferred relationship	Some
Hyperprolinemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperdicarboxylicaminoaciduria AND hyperprolinemia	Is a	True	Hyperprolinemia	Inferred relationship	Some
Proline dehydrogenase deficiency	Is a	True	Hyperprolinemia	Inferred relationship	Some
Hyperprolinemia type 2 is 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.	Is a	True	Hyperprolinemia	Inferred relationship	Some

This concept is not in any reference sets