58558003: Hyperlysinemia (disorder)

SNOMED CT Concept\Clinical 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\Hyperlysinemia
\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperlysinemia

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

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperlysinemia

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

Descriptions:

Id Description Lang Type Status Case? Module

97309013 Hyperlysinemia en Synonym Active Entire term case insensitive SNOMED CT core module
97310015 Hyperlysinemia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
97311016 Hyperlysinaemia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
498194017 Hyperlysinaemia en Synonym Active Entire term case insensitive SNOMED CT core module
797303018 Hyperlysinemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231845018 Saccharopine dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
1231846017 Alpha-aminoadipic semialdehyde deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperlysinemia	Is a	Disorder of lysine and hydroxylysine metabolism	true	Inferred relationship	Existential restriction modifier
Hyperlysinemia	Is a	Aminoacidemia	true	Inferred relationship	Existential restriction modifier
Hyperlysinemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Hyperlysinemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodic hyperlysinemia	Is a	True	Hyperlysinemia	Inferred relationship	Existential restriction modifier
Periodic hyperlysinemia with hyperammonemia	Is a	True	Hyperlysinemia	Inferred relationship	Existential restriction modifier
Persistent hyperlysinemia	Is a	True	Hyperlysinemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets