Ocular albinism with late-onset sensorineural deafness 722054007

SNOMED CT code

SNOMED code

722054007

name

Ocular albinism with late-onset sensorineural deafness

status

active

date introduced

2017-01-31

fully specified name(s)

Ocular albinism with late-onset sensorineural deafness (disorder)

synonyms

Ocular albinism with late-onset sensorineural deafness

attributes - group1

Associated morphology

Decreased melanin pigmentation 37257004

Finding site

Eye structure 81745001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Interprets

Hearing 47078008

Has interpretation

Impaired 260379002

attributes - group2

Occurrence

Adulthood 41847000

Finding site

Auditory structure 91159003

parents

X-linked recessive hereditary disease 1162976004
X-linked sensorineural hearing loss 232329002
Ocular albinism 26399002
Acquired sensorineural hearing loss 609125008

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
X-linked recessive hereditary disease 1162976004
Ocular albinism with late-onset sensorineural deafness 722054007

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
X-linked sensorineural hearing loss 232329002
Ocular albinism with late-onset sensorineural deafness 722054007

SNOMED CT Concept 138875005
Clinical finding 404684003
Eye / vision finding 118235002
Visual system disorder 128127008
Hereditary disorder of the visual system 363343008
Ocular albinism 26399002
Ocular albinism with late-onset sensorineural deafness 722054007

SNOMED CT Concept 138875005
Clinical finding 404684003
Functional finding 118228005
Hearing finding 118230007
Hearing disorder 128540005
Hearing loss 15188001
Sensorineural hearing loss 60700002
Acquired sensorineural hearing loss 609125008
Ocular albinism with late-onset sensorineural deafness 722054007

ancestors

sorted most to least specific

X-linked recessive hereditary disease 1162976004
X-linked sensorineural hearing loss 232329002
Ocular albinism 26399002
Acquired sensorineural hearing loss 609125008
X-linked hereditary disease 128430005
Albinism 15890002
Sensorineural hearing loss 60700002
Auditory system hereditary disorder 362991006
Congenital anomaly of eye 19416009
Lesion of eye 301905003
Hereditary disorder of the visual system 363343008
Acquired hearing loss 721294001
Sex-linked hereditary disorder 82852009
Hearing loss 15188001
Anomaly of eye 11131000119108
Developmental hereditary disorder 363070008
Disorder of pigmentation 414032001
Inborn error of metabolism 86095007
Hereditary disorder by system 363137000
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Congenital malformation 276654001
Hearing disorder 128540005
Disorder of eye 371405004
Hereditary metabolic disease 1821000146108
Hereditary disease 32895009
Developmental disorder 5294002
Hearing finding 118230007
Disorder of auditory system 362966006
Disorder of sensory organ 1279550006
Congenital disease 66091009
Globe finding 246915008
Disorder of eye region 371409005
Metabolic disease 75934005
Genetic disease 782964007
Functional finding 118228005
Ear and auditory finding 118236001
Visual system disorder 128127008
Disorder of head 118934005
Finding of head region 298364001
Eye / vision finding 118235002
Disorder of body system 362965005
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

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked recessive hereditary disease 1162976004

Ocular albinism with late-onset sensorineural deafness 722054007

SNOMED CT code