360994007: Deficiency of Xaa-Pro dipeptidase (disorder)

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

\Genetic disease\Hereditary disease\...

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of Xaa-Pro dipeptidase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of Xaa-Pro dipeptidase (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)	Due to	True	Deficiency of Xaa-Pro dipeptidase (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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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
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
477067012	Deficiency of prolidase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
741714012	Deficiency of prolidase (disorder)	en	Fully specified name	Active	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
3389871001000112	Prolidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5227141000241117	déficit en prolidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5227141000241117	déficit en prolidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389871001000112	Prolidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module