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 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

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	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	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
déficit en proline dipeptidase	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	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

This concept is not in any reference sets