733636005: 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase deficiency\3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3472906019 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472907011 3-phosphoglycerate dehydrogenase deficiency juvenile form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472908018 An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3472909014 An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioural disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	3-Phosphoglycerate dehydrogenase deficiency	true	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1

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
3472906019	3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472907011	3-phosphoglycerate dehydrogenase deficiency juvenile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472908018	An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3472909014	An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioural disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core