6483008: Tyrosinase-negative oculocutaneous albinism (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\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\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\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\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\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\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\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\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\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\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\Hypopigmentation of skin\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 of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\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 of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

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

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

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of pigmentation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\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 of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\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 of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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 head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\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\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\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\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\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\Hypopigmentation of skin\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 of skin\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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\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 of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\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 head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\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\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism

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

Descriptions:

Id Description Lang Type Status Case? Module

11757016 Tyrosinase-negative oculocutaneous albinism en Synonym Active Entire term case insensitive SNOMED CT core module

804267012 Tyrosinase-negative oculocutaneous albinism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1232615016 OCA1 - Tyrosinase-negative oculocutaneous albinism en Synonym Active Entire term case sensitive SNOMED CT core module

1232616015 Tyrosinase-related oculocutaneous albinism en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tyrosinase-negative oculocutaneous albinism	Is a	Oculocutaneous albinism	true	Inferred relationship	Existential restriction modifier
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Tyrosinase-negative oculocutaneous albinism	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	3
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Tyrosinase-negative oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Tyrosinase-negative oculocutaneous albinism	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Existential restriction modifier

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

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	Active	Entire term case insensitive	SNOMED CT core module
804267012	Tyrosinase-negative oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1232615016	OCA1 - Tyrosinase-negative oculocutaneous albinism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1232616015	Tyrosinase-related oculocutaneous albinism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module