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716747007: Dicarboxylic aminoaciduria syndrome (disorder)

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
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
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
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
3452741001000118 Dicarboxyl-Hyperaminoazidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dicarboxylic aminoaciduria syndrome (disorder) Is a Amino acid transport disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder) Is a Inherited aminoaciduria (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder) Interprets Urine observable true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dicarboxylic aminoaciduria syndrome (disorder) Interprets Measurement of amino acid in urine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dicarboxylic aminoaciduria syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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