782918002: 2-aminoadipine-2-oxoadipine-acidurie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\2-aminoadipic 2-oxoadipic aciduria (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\...
• \Disorder of amino acid and organic acid metabolism\Disorder of lysine and hydroxylysine metabolism\2-aminoadipic 2-oxoadipic aciduria (disorder)
• \Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism\2-aminoadipic 2-oxoadipic aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756690014	2-aminoadipic 2-oxoadipic aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756691013	Alpha-aminoadipic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756692018	2-aminoadipic 2-oxoadipic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11634651000146116	2-aminoadipine-2-oxoadipine-acidurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11634661000146118	2-aminoadipine-2-oxoadipine-acidurie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11634671000146112	alfa-aminoadipine-acidurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3756693011	A rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756694017	A rare disorder of lysine and hydroxylysine metabolism characterised by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioural disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.	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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