303852004: Lysinuric protein intolerance (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\Amino acid transport disorder\Lysinuric protein intolerance

\Metabolic disorder of transport\Amino acid transport disorder\Lysinuric protein intolerance

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

446071014 Lysinuric protein intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

446072019 Hyperdibasic aminoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

446073012 LPI - Lysinuric protein intolerance en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

446074018 Congenital lysinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

700084016 Lysinuric protein intolerance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

844971000052114 lysinurisk proteinintolerans sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysinuric protein intolerance	Is a	Amino acid transport disorder	true	Inferred relationship	Some
Lysinuric protein intolerance	Finding site	Body system structure	false	Inferred relationship	Some
Lysinuric protein intolerance	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dibasic aminoaciduria	Is a	True	Lysinuric protein intolerance	Inferred relationship	Some
Lysinuric protein intolerance, type 1	Is a	True	Lysinuric protein intolerance	Inferred relationship	Some
Lysinuric protein intolerance, type 2	Is a	True	Lysinuric protein intolerance	Inferred relationship	Some

This concept is not in any reference sets