342553006: Periodic hyperlysinemia with hyperammonemia (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\Periodic hyperlysinaemia with hyperammonaemia
\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperlysinemia\Periodic hyperlysinaemia with hyperammonaemia

\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism\Hyperlysinemia\Periodic hyperlysinaemia with hyperammonaemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperlysinemia\Periodic hyperlysinaemia with hyperammonaemia

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Periodic hyperlysinaemia with hyperammonaemia	Is a	Hyperlysinemia	true	Inferred relationship	Some
Periodic hyperlysinaemia with hyperammonaemia	Finding site	Body system structure	false	Inferred relationship	Some
Periodic hyperlysinaemia with hyperammonaemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets