238063003: verlies van meerdere peroxisomale functies (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of multiple peroxisomal functions

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

356845017 Loss of multiple peroxisomal functions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626894014 Loss of multiple peroxisomal functions (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6050601000146117 verlies van meerdere peroxisomale functies (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6050611000146115 verlies van meerdere peroxisomale functies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7063861000146116 verlies van multipele peroxisomale functies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Loss of multiple peroxisomal functions	Is a	Disorder of peroxisomal function	true	Inferred relationship	Some
Loss of multiple peroxisomal functions	Occurrence	Congenital	true	Inferred relationship	Some	1
Loss of multiple peroxisomal functions	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Zellweger's-like syndrome	Is a	True	Loss of multiple peroxisomal functions	Inferred relationship	Some
Pseudoinfantile Refsum's disease	Is a	True	Loss of multiple peroxisomal functions	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Loss of multiple peroxisomal functions	Inferred relationship	Some

This concept is not in any reference sets