37800003: stoornis van metabolisme van proline en/of hydroxyproline (aandoening)

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

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

6901861000146114 stofwisselingsstoornis van proline en/of hydroxyproline nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7987451000146116 stoornis van metabolisme van proline en/of hydroxyproline (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8034741000146111 stoornis van metabolisme van proline en/of hydroxyproline nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	false	Inferred relationship	Some
Disorder of proline AND/OR hydroxyproline metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of proline AND/OR hydroxyproline metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of proline AND/OR hydroxyproline metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of pyrroline-2-carboxylate reductase (disorder)	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Pipecolic acidemia	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Hyperhydroxyprolinemia	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Prolinuria	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Hyperprolinemia	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Proline dipeptidase deficiency	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Hyperprolinemia	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Iminoacidopathy	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
prolinedipeptidasedeficiëntie	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Autosomal recessive cutis laxa type 2B	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
de Barsey syndrome	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate synthase (disorder)	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some

This concept is not in any reference sets