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

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \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
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \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
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \Disease\Metabolic disease\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\3-phosphoglycerate dehydrogenase deficiency juvenile form
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency juvenile form

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3472907011	3-phosphoglycerate dehydrogenase deficiency juvenile form	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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