237929000: Disorder of lysine and hydroxylysine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\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

\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356599017 Disorder of lysine and hydroxylysine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626732017 Disorder of lysine and hydroxylysine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037489016 Lysine and hydroxylysine metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2120981000005115 Lysin- og hydroxylysinstofskifteforstyrrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of lysine and hydroxylysine metabolism	Is a	Disorder of lysine AND/OR hydroxylysine metabolism	true	Inferred relationship	Some
Disorder of lysine and hydroxylysine metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of lysine and hydroxylysine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of lysine and hydroxylysine metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2-Ketoadipic acidemia	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
Lysine intolerance	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
Hyperlysinemia	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
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.	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some

Reference Sets