716747007: Dicarboxylic aminoaciduria syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of body product\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Urine finding\Finding of urine substance level\Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Urine finding\Abnormal urinary product (finding)\Aciduria (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of amino acid level (finding)\Amino acid above reference range\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Finding of substance level (finding)\Finding of urine substance level\Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Measurement finding outside reference range\Measurement finding above reference range\...
• \Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Amino acid above reference range\Aminoaciduria (finding)\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inherited aminoaciduria\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.
• \Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5401399018	A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401400013	A rare autosomal recessive inborn error of metabolism characterised by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307414017	Dicarboxylic aminoaciduria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307415016	Dicarboxylic aminoaciduria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307416015	Glutamate aspartate transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6074941000241116	défaut de transport du glutamate-aspartate	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6074951000241118	syndrome de l'hyperaminoacidurie dicarboxylique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452741001000118	Dicarboxyl-Hyperaminoazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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