342553006: Periodic hyperlysinemia with hyperammonemia (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)\Hyperlysinemia\Periodic hyperlysinemia with hyperammonemia (disorder)
\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperlysinemia\Periodic hyperlysinemia with hyperammonemia (disorder)

\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism (disorder)\Hyperlysinemia\Periodic hyperlysinemia with hyperammonemia (disorder)

\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperlysinemia\Periodic hyperlysinemia with hyperammonemia (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Periodic hyperlysinemia with hyperammonemia (disorder)	Is a	Hyperlysinemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic hyperlysinemia with hyperammonemia (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic hyperlysinemia with hyperammonemia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
470309016	Hyperlysinuria with hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470310014	Periodic hyperlysinaemia with hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470311013	Hyperlysinuria with hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470312018	Periodic hyperlysinemia with hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
723958019	Periodic hyperlysinemia with hyperammonemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470309016	Hyperlysinuria with hyperammonemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
470309016	Hyperlysinuria with hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470310014	Periodic hyperlysinaemia with hyperammonaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
470310014	Periodic hyperlysinaemia with hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470311013	Hyperlysinuria with hyperammonaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
470311013	Hyperlysinuria with hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
470312018	Periodic hyperlysinemia with hyperammonemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
470312018	Periodic hyperlysinemia with hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
723958019	Periodic hyperlysinemia with hyperammonemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
723958019	Periodic hyperlysinemia with hyperammonemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6473801000241117	hyperlysinémie cyclique avec hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6473811000241115	hyperlysinémie périodique avec hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6473801000241117	hyperlysinémie cyclique avec hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6473811000241115	hyperlysinémie périodique avec hyperammoniémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module