Tyrosinase-negative oculocutaneous albinism 6483008

SNOMED CT code

SNOMED code

6483008

name

Tyrosinase-negative oculocutaneous albinism

status

active

date introduced

2002-01-31

fully specified name(s)

Tyrosinase-negative oculocutaneous albinism (disorder)

synonyms

Tyrosinase-negative oculocutaneous albinism
OCA1 - Tyrosinase-negative oculocutaneous albinism
Tyrosinase-related oculocutaneous albinism

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Decreased melanin pigmentation 37257004

Finding site

Skin structure 39937001

Occurrence

Congenital 255399007

attributes - group2

Finding site

Eye structure 81745001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Decreased melanin pigmentation 37257004

parents

Disturbance of tyrosine metabolism 37200009
Oculocutaneous albinism 63844009

children

Minimal pigment oculocutaneous albinism 237919007
Temperature-sensitive oculocutaneous albinism 237920001
Yellow mutant oculocutaneous albinism 82342003

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of organic acid metabolism 116021002
Disorder of amino acid metabolism 44779003
Disorder of amino acid and organic acid metabolism 237911005
Disturbance of tyrosine metabolism 37200009
Tyrosinase-negative oculocutaneous albinism 6483008

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Oculocutaneous albinism 63844009
Tyrosinase-negative oculocutaneous albinism 6483008

ancestors

sorted most to least specific

Disturbance of tyrosine metabolism 37200009
Oculocutaneous albinism 63844009
Disorder of amino acid and organic acid metabolism 237911005
Albinism 15890002
Hereditary disorder of the integument 363185004
Hereditary disorder of the visual system 363343008
Congenital oculocutaneous hypopigmentation 61649007
Genetic disorder of skin pigmentation 724839001
Autosomal recessive hereditary disorder 85995004
Disorder of amino acid metabolism 44779003
Congenital anomaly of eye 19416009
Autosomal hereditary disorder 1899006
Developmental hereditary disorder 363070008
Inborn error of metabolism 86095007
Hereditary disorder by system 363137000
Congenital deficiency of pigment of skin 1953005
Lesion of eye 301905003
Disorder of organic acid metabolism 116021002
Anomaly of eye 11131000119108
Hereditary metabolic disease 1821000146108
Congenital pigmentary skin anomalies 205564003
Congenital anomaly of visual system 127329003
Congenital anomaly of head 87290003
Skin hypopigmented 23006000
Metabolic disease 75934005
Disorder of eye 371405004
Disorder of skin pigmentation 46690002
Hereditary disease 32895009
Congenital anomaly of skin 199879009
Disorder of sensory organ 1279550006
Disorder of pigmentation 414032001
Genetic disease 782964007
Congenital anomaly of integument 38164009
Globe finding 246915008
Disorder of eye region 371409005
Skin lesion 95324001
Congenital malformation 276654001
Visual system disorder 128127008
Disorder of head 118934005
Soft tissue lesion 239953001
Disorder of skin 95320005
Finding of head region 298364001
Lesion of skin and/or skin-associated mucous membrane 714974000
Developmental disorder 5294002
Eye / vision finding 118235002
Congenital disease 66091009
Head finding 406122000
Skin finding 106076001
Skin or mucosa lesion 247440002
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Finding of head and neck region 118254002
Disorder of soft tissue 19660004
Skin AND/OR mucosa finding 415531008
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of organic acid metabolism 116021002

Disorder of amino acid metabolism 44779003

Disorder of amino acid and organic acid metabolism 237911005

Disturbance of tyrosine metabolism 37200009

Tyrosinase-negative oculocutaneous albinism 6483008

SNOMED CT code