61071003: Proline dehydrogenase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Proline dehydrogenase deficiency (disorder)

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

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\hyperprolinémie (trouble)\Proline dehydrogenase deficiency (disorder)
\trouble métabolique\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\hyperprolinémie (trouble)\Proline dehydrogenase deficiency (disorder)
\trouble métabolique\Inborn error of metabolism\Proline dehydrogenase deficiency (disorder)
\trouble métabolique\Enzymopathy\Proline dehydrogenase deficiency (disorder)
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\hyperprolinémie (trouble)\Proline dehydrogenase deficiency (disorder)

\Congenital disease\Inborn error of metabolism\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:

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proline dehydrogenase deficiency (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	est un(e) (attribut)	hyperprolinémie (trouble)	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets