58558003: Hyperlysinemia (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\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodic hyperlysinaemia	Is a	True	Hyperlysinemia	Inferred relationship	Some
Periodic hyperlysinaemia with hyperammonaemia	Is a	True	Hyperlysinemia	Inferred relationship	Some
Persistent hyperlysinemia	Is a	True	Hyperlysinemia	Inferred relationship	Some

This concept is not in any reference sets