Retinitis pigmentosa-deafness-ataxia syndrome 73119000

SNOMED CT code

SNOMED code

73119000

name

Retinitis pigmentosa-deafness-ataxia syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Retinitis pigmentosa-deafness-ataxia syndrome (disorder)

synonyms

Retinitis pigmentosa-deafness-ataxia syndrome
Hallgren's syndrome

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group4

Occurrence

Congenital 255399007

Finding site

Auditory structure 91159003

attributes - group1

Associated morphology

Dystrophy 4720007

Finding site

Retinal structure 5665001

attributes - group3

Interprets

Hearing 47078008

parents

Retinitis pigmentosa-deafness syndrome 57838006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Retinitis pigmentosa-deafness syndrome 57838006
Retinitis pigmentosa-deafness-ataxia syndrome 73119000

ancestors

sorted most to least specific

Retinitis pigmentosa-deafness syndrome 57838006
Autosomal recessive retinitis pigmentosa 232053004
Congenital malformation 276654001
Auditory system hereditary disorder 362991006
Developmental hereditary disorder 363070008
Congenital sensorineural hearing loss 700453005
Retinitis pigmentosa 28835009
Developmental disorder 5294002
Sensorineural hearing loss 60700002
Autosomal recessive hereditary disorder 85995004
Congenital hearing disorder 95827002
Hereditary retinal dystrophy 41799005
Hearing loss 15188001
Autosomal hereditary disorder 1899006
Congenital disease 66091009
Retinal dystrophy 314407005
Hearing disorder 128540005
Hereditary disorder of the visual system 363343008
Degeneration of retina 95695004
Disorder of auditory system 362966006
Hearing finding 118230007
Hereditary disorder by system 363137000
Retinal disorder 29555009
Ear and auditory finding 118236001
Hereditary disease 32895009
Functional finding 118228005
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
Eye / vision finding 118235002
Head finding 406122000
Disorder of body system 362965005
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

Developmental disorder 5294002

Congenital malformation 276654001

Retinitis pigmentosa-deafness syndrome 57838006

Retinitis pigmentosa-deafness-ataxia syndrome 73119000

SNOMED CT code