Spinocerebellar ataxia type 34 719255000

SNOMED CT code

SNOMED code

719255000

name

Spinocerebellar ataxia type 34

status

active

date introduced

2017-01-31

fully specified name(s)

Spinocerebellar ataxia type 34 (disorder)

synonyms

Spinocerebellar ataxia type 34
Erythrokeratodermia with ataxia
Spinocerebellar ataxia and erythrokeratodermia

attributes - group1

Finding site

Skin structure 39937001

Associated morphology

Morphologically abnormal structure 49755003

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

attributes - group4

Associated morphology

Degenerative abnormality 107669003

Finding site

Cerebellar structure 113305005

attributes - group3

Associated morphology

Degenerative abnormality 107669003

Finding site

Spinal cord structure 2748008

attributes - group2

Interprets

Keratinization 44138005

Has interpretation

Abnormal 263654008

parents

Autosomal dominant hereditary disorder 11164009
Spinocerebellar ataxia 129609000
Congenital anomaly of skin 199879009
Erythrokeratoderma 254215005
Developmental hereditary disorder 363070008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Spinocerebellar ataxia type 34 719255000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Spinocerebellar ataxia 129609000
Spinocerebellar ataxia type 34 719255000

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Congenital anomaly of integument 38164009
Congenital anomaly of skin 199879009
Spinocerebellar ataxia type 34 719255000

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Disorder of keratinization 277905003
Inherited disorder of keratinization 254214009
Erythrokeratoderma 254215005
Spinocerebellar ataxia type 34 719255000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Spinocerebellar ataxia type 34 719255000

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Spinocerebellar ataxia 129609000
Congenital anomaly of skin 199879009
Erythrokeratoderma 254215005
Developmental hereditary disorder 363070008
Autosomal hereditary disorder 1899006
Hereditary cerebellar degeneration 37650008
Congenital anomaly of integument 38164009
Inherited disorder of keratinization 254214009
Hereditary ataxia 763597000
Cerebellar ataxia 85102008
Spinocerebellar disease 91502009
Disorder of skin 95320005
Hereditary degenerative disease of central nervous system 106018006
Disorder of keratinization 277905003
Ataxia 20262006
Cerebellar degeneration 95646004
Skin finding 106076001
Congenital malformation 276654001
Hereditary disorder of the integument 363185004
Encephalomyelopathy 370502006
Disorder of skin and/or subcutaneous tissue 80659006
Hereditary disorder of nervous system 363235000
Disorder of integument 128598002
Finding of coordination 298314008
Cerebellar disorder 223176004
Developmental disorder 5294002
Abnormal keratinization 69707008
Myelopathy 48522003
Degenerative brain disorder 52522001
Skin AND/OR mucosa finding 415531008
Congenital disease 66091009
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of brain 81308009
Degenerative disease of the central nervous system 80690008
Hereditary disorder by system 363137000
General finding of soft tissue 248402002
Functional finding 118228005
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
Genetic disease 782964007
Disorder of nervous system 118940003
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

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Spinocerebellar ataxia type 34 719255000

SNOMED CT code