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742876007: Peroxisome biogenesis disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3550352017 Peroxisome biogenesis disorder spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550353010 Peroxisome biogenesis disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550354016 Peroxisome biogenesis disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550355015 PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3550356019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3550352017 Peroxisome biogenesis disorder spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550353010 Peroxisome biogenesis disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550354016 Peroxisome biogenesis disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3550355015 PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3550356019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
899321000172114 spectre des anomalies de la biogénèse du péroxysome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978341000172114 anomalie de la biogénèse du péroxysome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
899321000172114 spectre des anomalies de la biogénèse du péroxysome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978341000172114 anomalie de la biogénèse du péroxysome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Peroxisome biogenesis disorder (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder (disorder) Is a Disorder of peroxisomal function true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Zellweger syndrome Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal adrenoleucodystrophy Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile Refsum's disease Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder due to PEX5 mutation (disorder) Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX6 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder due to PEX1 mutation (disorder) Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder due to PEX10 mutation (disorder) Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX13 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX12 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX16 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome biogenesis disorder due to PEX14 mutation (disorder) Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX26 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX3 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX19 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PEX2 deficiency Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Is a True Peroxisome biogenesis disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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