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 (disorder)\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 of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperprolinemia\Proline dehydrogenase deficiency (disorder)
\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\Hyperprolinemia\Proline dehydrogenase deficiency (disorder)
\Metabolic disease\Enzymopathy\Proline dehydrogenase deficiency (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperprolinemia\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

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

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	Some
Proline dehydrogenase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	Is a	Hyperprolinemia	true	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Proline dehydrogenase deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets