61071003: Proline dehydrogenase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Proline dehydrogenase deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Proline dehydrogenase deficiency (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Proline dehydrogenase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Proline dehydrogenase deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperprolinemia (disorder)\Proline dehydrogenase deficiency (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\Hyperprolinemia (disorder)\Proline dehydrogenase deficiency (disorder)
\Metabolic disease\Enzymopathy\Proline dehydrogenase deficiency (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperprolinemia (disorder)\Proline dehydrogenase deficiency (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
Proline dehydrogenase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Proline dehydrogenase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Proline dehydrogenase deficiency (disorder)	Is a	Hyperprolinemia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Proline dehydrogenase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Proline dehydrogenase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proline dehydrogenase deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
101484012	Proline dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101485013	Hyperprolinemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101486014	Proline oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498929018	Hyperprolinaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800093016	Proline dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216791011	Hyperprolinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218279011	Hyperprolinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101484012	Proline dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101484012	Proline dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101485013	Hyperprolinemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101486014	Proline oxidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101486014	Proline oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498929018	Hyperprolinaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800093016	Proline dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
800093016	Proline dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216791011	Hyperprolinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218279011	Hyperprolinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431951001000110	Hyperprolinämie Typ I	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4590491000241113	déficit en proline-déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4590491000241113	déficit en proline-déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431951001000110	Hyperprolinämie Typ I	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module