360994007: prolidasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of Xaa-Pro dipeptidase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of Xaa-Pro dipeptidase

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Deficiency of Xaa-Pro dipeptidase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of Xaa-Pro dipeptidase
\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\Deficiency of Xaa-Pro dipeptidase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of Xaa-Pro dipeptidase

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

477067012 Deficiency of prolidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
741714012 Deficiency of prolidase (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
5286006013 Deficiency of Xaa-Pro dipeptidase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5286007016 Deficiency of Xaa-Pro dipeptidase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5286008014 Deficiency of proline dipeptidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5286009018 Deficiency of imidodipeptidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6832601000146116 prolidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6832611000146119 prolidasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8238511000146116 deficiëntie van prolidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14486311000146115 deficiëntie van prolinedipeptidase 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
Deficiency of Xaa-Pro dipeptidase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)	Due to	True	Deficiency of Xaa-Pro dipeptidase	Inferred relationship	Some	1

This concept is not in any reference sets