Ataxia co-occurrent and due to phytanic acid storage disease 724769002

SNOMED CT code

SNOMED code

724769002

name

Ataxia co-occurrent and due to phytanic acid storage disease

status

active

date introduced

2017-07-31

fully specified name(s)

Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

synonyms

Ataxia co-occurrent and due to phytanic acid storage disease
Ataxia with Refsum disease

attributes - group2

Due to

Phytanic acid storage disease 25362006

attributes - group5

Occurrence

Congenital 255399007

attributes - group4

Finding site

Peripheral nervous system structure 3058005

attributes - group6

Associated morphology

Dystrophy 4720007

Finding site

Retinal structure 5665001

attributes - group3

Finding site

Myelinated nerve fiber structure 54115001

Associated morphology

Myelin sheath alteration 125495003

attributes - group1

Associated morphology

Dystrophy 4720007

Finding site

White matter structure of brain and spinal cord 389080008

parents

Metabolic neuropathy 1153623003
Phytanic acid storage disease 25362006
Hereditary ataxia 763597000
Central nervous system complication 87536007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Neuropathy 386033004
Metabolic neuropathy 1153623003
Ataxia co-occurrent and due to phytanic acid storage disease 724769002

SNOMED CT Concept 138875005
Clinical finding 404684003
Neurological lesion 299735001
Leukodystrophy 192781003
Phytanic acid storage disease 25362006
Ataxia co-occurrent and due to phytanic acid storage disease 724769002

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Ataxia co-occurrent and due to phytanic acid storage disease 724769002

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Central nervous system complication 87536007
Ataxia co-occurrent and due to phytanic acid storage disease 724769002

ancestors

sorted most to least specific

Metabolic neuropathy 1153623003
Phytanic acid storage disease 25362006
Hereditary ataxia 763597000
Central nervous system complication 87536007
Hereditary degenerative disease of central nervous system 106018006
Ataxia 20262006
Inherited metabolic disorder of nervous system 128190004
Leukodystrophy 192781003
Retinitis pigmentosa 28835009
Storage disease 34420000
Hereditary motor and sensory neuropathy 398100001
Disorder of fatty acid metabolism 39929009
Neuropathy 386033004
Finding of coordination 298314008
Neurological lesion 299735001
Hereditary retinal dystrophy 41799005
Inborn error of metabolism 86095007
Hereditary peripheral neuropathy 65017003
Disorder of organic acid metabolism 116021002
Degenerative disease of the central nervous system 80690008
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Hereditary disorder of nervous system 363235000
Disorder of the central nervous system 23853001
Retinal dystrophy 314407005
Hereditary metabolic disease 1821000146108
Hereditary disorder of the visual system 363343008
Congenital disease 66091009
Disorder of the peripheral nervous system 42658009
Disorder of nervous system 118940003
Degeneration of retina 95695004
Metabolic disease 75934005
Hereditary disorder by system 363137000
Central nervous system finding 246556002
Retinal disorder 29555009
Hereditary disease 32895009
Degenerative disorder of eye 62585004
Disorder of vitreous body and retina 312771007
Genetic disease 782964007
Anomaly of eye 11131000119108
Retina finding 399858007
Degenerative disorder 362975008
Disorder of posterior segment of eye 128536001
Disorder of eye 371405004
Disorder of sensory organ 1279550006
Globe finding 246915008
Disorder of eye region 371409005
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Disorder of body system 362965005
Eye / vision finding 118235002
Head finding 406122000
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Disorder of body system 362965005

Disorder of nervous system 118940003

Neuropathy 386033004

Metabolic neuropathy 1153623003

Ataxia co-occurrent and due to phytanic acid storage disease 724769002

SNOMED CT code