6483008: Tyrosinase-negative oculocutaneous albinism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Lesion of eye structure\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Globe finding\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Globe finding\Lesion of eye structure\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Tyrosinase-negative oculocutaneous albinism
\Disease\Metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinase-negative oculocutaneous albinism	Is a	Oculocutaneous albinism	true	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Tyrosinase-negative oculocutaneous albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	Associated morphology	medfödd brist	false	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	true	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some	3
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	3
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Eye structure	true	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Tyrosinase-negative oculocutaneous albinism	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Minimal pigment oculocutaneous albinism	Is a	True	Tyrosinase-negative oculocutaneous albinism	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	Is a	True	Tyrosinase-negative oculocutaneous albinism	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	Is a	True	Tyrosinase-negative oculocutaneous albinism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
11757016	Tyrosinase-negative oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804267012	Tyrosinase-negative oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232615016	OCA1 - Tyrosinase-negative oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232616015	Tyrosinase-related oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
789531000052111	tyrosinasnegativ okulokutan albinism	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)