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782918002: 2-aminoadipic 2-oxoadipic aciduria (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\2-aminoadipic 2-oxoadipic aciduria

\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\...

\Disorder of amino acid and organic acid metabolism\Lysine and hydroxylysine metabolism disorder\2-aminoadipic 2-oxoadipic aciduria

\Disorder of lysine AND/OR hydroxylysine metabolism\Lysine and hydroxylysine metabolism disorder\2-aminoadipic 2-oxoadipic aciduria

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3756691013 Alpha-aminoadipic aciduria en Synonym Active Case insensitive SNOMED CT core

3756692018 2-aminoadipic 2-oxoadipic aciduria en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2-aminoadipic 2-oxoadipic aciduria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
2-aminoadipic 2-oxoadipic aciduria	Is a	Lysine and hydroxylysine metabolism disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756690014	2-aminoadipic 2-oxoadipic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756691013	Alpha-aminoadipic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3756692018	2-aminoadipic 2-oxoadipic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core