237920001: temperatuurgevoelig oculocutaan albinisme (aandoening)

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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\Finding of head region\Finding of eye 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\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\Finding of head region\Finding of eye 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\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\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\Temperature-sensitive oculocutaneous albinism
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\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\Temperature-sensitive oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of pigmentation (disorder)\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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 (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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 (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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 (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive oculocutaneous albinism
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive 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\Temperature-sensitive oculocutaneous albinism
\Disease\Developmental disorder\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-negative oculocutaneous albinism\Temperature-sensitive oculocutaneous albinism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Temperature-sensitive oculocutaneous albinism	Is a	Tyrosinase-negative oculocutaneous albinism	true	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	3
Temperature-sensitive oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Finding site	Eye structure	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Finding site	Skin structure	true	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Finding site	Skin structure	false	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Occurrence	Congenital	false	Inferred relationship	Some	3
Temperature-sensitive oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	3
Temperature-sensitive oculocutaneous albinism	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Occurrence	Congenital	true	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Temperature-sensitive oculocutaneous albinism	Finding site	Eye structure	true	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Temperature-sensitive oculocutaneous albinism	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356584017	Temperature-sensitive oculocutaneous albinism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626721017	Temperature-sensitive oculocutaneous albinism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6485731000146112	temperatuurgevoelig oculocutaan albinisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6485741000146116	temperatuurgevoelig oculocutaan albinisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)