Autosomal recessive cerebellar ataxia due to STUB1 deficiency 782719004

SNOMED CT code

SNOMED code

782719004

name

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

status

active

date introduced

2019-07-31

fully specified name(s)

Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder)

synonyms

Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency
Spinocerebellar ataxia autosomal recessive type 16
Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency
SCAR16 - spinocerebellar ataxia autosomal recessive type 16

attributes - group2

Finding site

Spinal cord structure 2748008

Associated morphology

Degenerative abnormality 107669003

attributes - group1

Finding site

Cerebellar structure 113305005

Associated morphology

Degenerative abnormality 107669003

parents

Spinocerebellar ataxia 129609000
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Spinocerebellar ataxia 129609000
Autosomal recessive cerebellar ataxia due to STUB1 deficiency 782719004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Autosomal recessive cerebellar ataxia due to STUB1 deficiency 782719004

ancestors

sorted most to least specific

Spinocerebellar ataxia 129609000
Autosomal recessive hereditary disorder 85995004
Hereditary cerebellar degeneration 37650008
Autosomal hereditary disorder 1899006
Hereditary ataxia 763597000
Cerebellar ataxia 85102008
Spinocerebellar disease 91502009
Hereditary degenerative disease of central nervous system 106018006
Ataxia 20262006
Cerebellar degeneration 95646004
Encephalomyelopathy 370502006
Hereditary disorder of nervous system 363235000
Finding of coordination 298314008
Cerebellar disorder 223176004
Myelopathy 48522003
Degenerative brain disorder 52522001
Disorder of brain 81308009
Degenerative disease of the central nervous system 80690008
Hereditary disorder by system 363137000
Finding of spinal cord 299733008
Disorder of spinal region 410730009
Hereditary disease 32895009
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Degenerative disorder 362975008
Finding of spinal region 298379008
Disorder of back 33308003
Disorder of nervous system 118940003
Genetic disease 782964007
Head finding 406122000
Central nervous system finding 246556002
Finding of back 414252009
Disorder of body system 362965005
Finding of head and neck region 118254002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Finding of coordination 298314008

Ataxia 20262006

Hereditary ataxia 763597000

Spinocerebellar ataxia 129609000

Autosomal recessive cerebellar ataxia due to STUB1 deficiency 782719004

SNOMED CT code