Peroxisome biogenesis disorder 742876007

SNOMED CT code

SNOMED code

742876007

name

Peroxisome biogenesis disorder

status

active

date introduced

2018-01-31

fully specified name(s)

Peroxisome biogenesis disorder (disorder)

synonyms

Peroxisome biogenesis disorder spectrum
Peroxisome biogenesis disorder
PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum

attributes - group1

Occurrence

Congenital 255399007

parents

Disorder of peroxisomal function 238059005
Autosomal recessive hereditary disorder 85995004

children

Deafness, enamel hypoplasia, nail defect syndrome 721085000
Infantile Refsum's disease 238062008
Neonatal adrenoleucodystrophy 238061001
PEX1 deficiency 1187532002
PEX10 deficiency 1187529000
PEX12 deficiency 1187530005
PEX13 deficiency 1187527003
PEX14 deficiency 1187528008
PEX16 deficiency 1187526007
PEX19 deficiency 1187524005
PEX2 deficiency 1187525006
PEX26 deficiency 1187522009
PEX3 deficiency 1187523004
PEX5 deficiency 1187548001
PEX6 deficiency 1187550009
Zellweger syndrome 88469006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Disorder of peroxisomal function 238059005
Peroxisome biogenesis disorder 742876007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Peroxisome biogenesis disorder 742876007

ancestors

sorted most to least specific

Disorder of peroxisomal function 238059005
Autosomal recessive hereditary disorder 85995004
Inborn error of metabolism 86095007
Autosomal hereditary disorder 1899006
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Hereditary disease 32895009
Metabolic disease 75934005
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

Inborn error of metabolism 86095007

Disorder of peroxisomal function 238059005

Peroxisome biogenesis disorder 742876007

SNOMED CT code