Spastic ataxia with congenital miosis 763669001

SNOMED CT code

SNOMED code

763669001

name

Spastic ataxia with congenital miosis

status

active

date introduced

2018-07-31

fully specified name(s)

Spastic ataxia with congenital miosis (disorder)

synonyms

Spastic ataxia with congenital miosis
Autosomal dominant spastic ataxia type 7

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Central nervous system structure 21483005

attributes - group2

Pathological process

Pathological developmental process 308490002

Finding site

Pupil structure 392406005

Associated morphology

Congenital smallness 41086002

Occurrence

Congenital 255399007

attributes - group3

Interprets

Pupil constriction 415219007

attributes - group4

Interprets

Size of pupil 363953003

parents

Autosomal dominant hereditary disorder 11164009
Disorder of the central nervous system 23853001
Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Congenital miosis 400962005
Hereditary ataxia 763597000

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
Spastic ataxia with congenital miosis 763669001

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Spastic ataxia with congenital miosis 763669001

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Spastic ataxia with congenital miosis 763669001

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Spastic ataxia with congenital miosis 763669001

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Constricted pupil 301939004
Congenital miosis 400962005
Spastic ataxia with congenital miosis 763669001

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of coordination 298314008
Ataxia 20262006
Hereditary ataxia 763597000
Spastic ataxia with congenital miosis 763669001

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Disorder of the central nervous system 23853001
Developmental hereditary disorder 363070008
Hereditary disorder of the visual system 363343008
Congenital miosis 400962005
Hereditary ataxia 763597000
Autosomal hereditary disorder 1899006
Congenital anomaly of pupil 11211000119108
Ataxia 20262006
Central nervous system finding 246556002
Constricted pupil 301939004
Hereditary disorder of nervous system 363235000
Disorder of nervous system 118940003
Congenital anomaly of eye 19416009
Finding of coordination 298314008
Hereditary disorder by system 363137000
Functional finding 118228005
Pupillary disorder 68633000
Finding of size of pupil 301938007
Hereditary disease 32895009
Anomaly of eye 11131000119108
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Finding of appearance of pupil 301937002
Genetic disease 782964007
Disorder of eye 371405004
Pupil finding 247010007
Congenital malformation 276654001
Disorder of sensory organ 1279550006
Developmental disorder 5294002
Globe finding 246915008
Disorder of eye region 371409005
Congenital disease 66091009
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

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Spastic ataxia with congenital miosis 763669001

SNOMED CT code