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

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
63062017 Disorder of proline and hydroxyproline metabolism, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
63063010 Iminoacidopathy, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
63065015 Iminoacidopathy en Synonym (core metadata concept) Inactive 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
1994881000005111 prolin- OG/ELLER hydroxyprolinstofskifteforstyrrelse da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish 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	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
Deficiency of pyrroline-5-carboxylate reductase (disorder)	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
Prolindipeptidasemangel	Is a	False	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
A rare hereditary developmental defect with connective tissue involvement and characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	Is a	True	Disorder of proline AND/OR hydroxyproline metabolism	Inferred relationship	Some
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, 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