733637001: 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase deficiency\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\3-phosphoglycerate dehydrogenase deficiency infantile 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
3472899015	3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472900013	3-phosphoglycerate dehydrogenase deficiency infantile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472901012	An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3472899015	3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472900013	3-phosphoglycerate dehydrogenase deficiency infantile form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472901012	An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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