716747007: Dicarboxylic aminoaciduria syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited aminoaciduria\Dicarboxylic aminoaciduria syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dicarboxylic aminoaciduria syndrome
• \Metabolic disease\Hereditary metabolic disease\Inherited aminoaciduria\Dicarboxylic aminoaciduria syndrome
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Dicarboxylic aminoaciduria syndrome
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Aminoaciduria\Inherited aminoaciduria\Dicarboxylic aminoaciduria syndrome
• \Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Dicarboxylic aminoaciduria syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307414017	Dicarboxylic aminoaciduria syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307415016	Dicarboxylic aminoaciduria syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3307416015	Glutamate aspartate transport defect	en	Synonym	Active	Case insensitive	SNOMED CT core
3307417012	Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core
3307418019	Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome.	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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