37800003: Disorder of proline AND/OR hydroxyproline metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of proline AND/OR hydroxyproline metabolism

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

63061012 Disorder of proline AND/OR hydroxyproline metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

486812010 Disorder of proline and hydroxyproline metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769708013 Disorder of proline AND/OR hydroxyproline metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

63061012 Disorder of proline AND/OR hydroxyproline metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

63065015 Iminoacidopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

486812010 Disorder of proline and hydroxyproline metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

486812010 Disorder of proline and hydroxyproline metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769708013 Disorder of proline AND/OR hydroxyproline metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6079761000241116 trouble métabolique de la proline et/ou de l'hydroxyproline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6079771000241112 trouble du métabolisme de la proline et/ou de l'hydroxyproline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6079761000241116 trouble métabolique de la proline et/ou de l'hydroxyproline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6079771000241112 trouble du métabolisme de la proline et/ou de l'hydroxyproline 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
Disorder of proline AND/OR hydroxyproline metabolism	Is a	Disorder of amino acid metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of proline AND/OR hydroxyproline metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of proline AND/OR hydroxyproline metabolism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of proline AND/OR hydroxyproline metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of pyrroline-2-carboxylate reductase	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of pyrroline-5-carboxylate reductase (disorder)	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Pipecolic acidemia	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperhydroxyprolinaemia	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Prolinuria	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperprolinemia (disorder)	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Proline dipeptidase deficiency	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperprolinemia	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Iminoacidopathy	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
déficit en proline dipeptidase	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2B	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets