722059002: Oculocutaneous albinism type 7 (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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)

\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)

\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Finding of head region\Globe finding\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Finding of head region\Globe finding\Lesion of eye structure\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)

\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Eye / vision finding\Globe finding\Lesion of eye structure\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Eye / vision finding\Globe finding\Lesion of eye structure\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)

\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of pigmentation (disorder)\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Metabolic disease\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)
\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\Oculocutaneous albinism type 7 (disorder)
\Disease\Developmental disorder\Congenital malformation\Albinism\Ocular albinism\Autosomal recessive ocular albinism (disorder)\Oculocutaneous albinism\Oculocutaneous albinism type 7 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330419013 Oculocutaneous albinism type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330420019 Oculocutaneous albinism type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330421015 A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3902531000052117 okulokutan albinism typ 7 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocutaneous albinism type 7 (disorder)	Is a	Oculocutaneous albinism	true	Inferred relationship	Some
Oculocutaneous albinism type 7 (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculocutaneous albinism type 7 (disorder)	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	5
Oculocutaneous albinism type 7 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Oculocutaneous albinism type 7 (disorder)	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7 (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	4
Oculocutaneous albinism type 7 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Associated morphology	kongenital hypopigmentering	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Oculocutaneous albinism type 7 (disorder)	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
3330419013	Oculocutaneous albinism type 7 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330420019	Oculocutaneous albinism type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330421015	A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3902531000052117	okulokutan albinism typ 7	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)