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742876007: Peroxisome biogenesis disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3550352017 Peroxisome biogenesis disorder spectrum en Synonym Active Entire term case insensitive SNOMED CT core module
3550353010 Peroxisome biogenesis disorder en Synonym Active Entire term case insensitive SNOMED CT core module
3550354016 Peroxisome biogenesis disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3550355015 PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum en Synonym Active Entire term case sensitive SNOMED CT core module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Peroxisome biogenesis disorder Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder Is a Disorder of peroxisomal function true Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Zellweger syndrome Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Neonatal adrenoleukodystrophy Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Infantile Refsum's disease Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX5 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX6 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX1 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX10 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX13 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX12 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX16 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX14 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX26 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX3 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX19 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder due to PEX2 mutation Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier
Deafness, enamel hypoplasia, nail defect syndrome Is a True Peroxisome biogenesis disorder Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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