Ocular albinism, type I 78642008

SNOMED CT code

SNOMED code

78642008

name

Ocular albinism, type I

status

active

date introduced

2002-01-31

fully specified name(s)

Ocular albinism, type I (disorder)

synonyms

OA1 - X-linked ocular albinism
X-linked ocular albinism
X-linked recessive ocular albinism
X-linked ocular albinism, Nettleship type
Nettleship-Falls type ocular albinism
Ocular albinism, type I
X linked ocular albinism

attributes - group1

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Eye structure 81745001

Associated morphology

Decreased melanin pigmentation 37257004

parents

X-linked recessive hereditary disease 1162976004
Ocular albinism 26399002

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, type I 78642008

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, type I 78642008

ancestors

sorted most to least specific

X-linked recessive hereditary disease 1162976004
Ocular albinism 26399002
X-linked hereditary disease 128430005
Albinism 15890002
Congenital anomaly of eye 19416009
Lesion of eye 301905003
Hereditary disorder of the visual system 363343008
Sex-linked hereditary disorder 82852009
Anomaly of eye 11131000119108
Developmental hereditary disorder 363070008
Disorder of pigmentation 414032001
Inborn error of metabolism 86095007
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Hereditary disorder by system 363137000
Congenital malformation 276654001
Disorder of eye 371405004
Hereditary metabolic disease 1821000146108
Hereditary disease 32895009
Developmental disorder 5294002
Disorder of sensory organ 1279550006
Congenital disease 66091009
Globe finding 246915008
Disorder of eye region 371409005
Metabolic disease 75934005
Genetic disease 782964007
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

Genetic disease 782964007

Hereditary disease 32895009

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked recessive hereditary disease 1162976004

Ocular albinism, type I 78642008

SNOMED CT code