237929000: Disorder of lysine and hydroxylysine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\...

\Disorder of amino acid and organic acid metabolism\Disorder of lysine and hydroxylysine metabolism (disorder)

\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism (disorder)

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

356599017 Disorder of lysine and hydroxylysine metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

893601000172112 trouble du métabolisme de la lysine et de l'hydroxylysine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

893601000172112 trouble du métabolisme de la lysine et de l'hydroxylysine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of lysine and hydroxylysine metabolism (disorder)	Is a	Disorder of lysine AND/OR hydroxylysine metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of lysine and hydroxylysine metabolism (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of lysine and hydroxylysine metabolism (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of lysine and hydroxylysine metabolism (disorder)	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2-Ketoadipic acidemia	Is a	True	Disorder of lysine and hydroxylysine metabolism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysine intolerance (disorder)	Is a	True	Disorder of lysine and hydroxylysine metabolism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Disorder of lysine and hydroxylysine metabolism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperlysinemia	Is a	True	Disorder of lysine and hydroxylysine metabolism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
2-aminoadipic 2-oxoadipic aciduria (disorder)	Is a	True	Disorder of lysine and hydroxylysine metabolism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set