237929000: stoornis van lysine- en hydroxylysinemetabolisme (aandoening)

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
86031000146113 stoornis van lysine- en hydroxylysinemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
961781000146111 stoornis van lysine- en hydroxylysinemetabolisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some
2-aminoadipic 2-oxoadipic aciduria (disorder)	Is a	True	Disorder of lysine and hydroxylysine metabolism	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set