50056009: Lysinuric protein intolerance, type 1 (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\Lysinuric protein intolerance, type 1

\Metabolic disorder of transport\Amino acid transport disorder\Lysinuric protein intolerance\Lysinuric protein intolerance, type 1

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

83379013 Lysinuric protein intolerance, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

495577010 Dibasic aminoaciduria - type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

787802018 Lysinuric protein intolerance, type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13994721000172113 IPDL (intolérance aux protéines dibasiques avec lysinurie) de type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13994731000172111 intolérance aux protéines dibasiques avec lysinurie de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13994741000172116 aminoacidurie dibasique de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4609091000172114 dibasische aminoacidurie type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4609101000172118 lysinurische eiwitintolerantie type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysinuric protein intolerance, type 1	Is a	Lysinuric protein intolerance	true	Inferred relationship	Some
Lysinuric protein intolerance, type 1	Is a	Lysinuric protein intolerance	false	Inferred relationship	Some
Lysinuric protein intolerance, type 1	Finding site	Body system structure	false	Inferred relationship	Some
Lysinuric protein intolerance, type 1	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets