238059005: Disorder of peroxisomal function (disorder)

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

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

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function

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

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

356841014 Disorder of peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626890017 Disorder of peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6072061000241110 trouble de la fonction peroxysomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6072071000241119 trouble de la fonction des peroxysomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3452211001000112 Peroxisomale Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
General loss of peroxisomal function	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Loss of multiple peroxisomal functions	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Loss of single peroxisomal function	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Liver disease due to peroxisomal disease	Due to	True	Disorder of peroxisomal function	Inferred relationship	Some	2

Reference Sets

Description inactivation indicator reference set