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

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
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
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
7620831000241116	forme juvénile du 3-PGDH (déficit en 3-phosphoglycérate déshydrogénase)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7620841000241114	forme juvénile du déficit en 3-phosphoglycérate déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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