9311003: Hermansky-Pudlak syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of pigmentation (disorder)\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Platelet storage pool defect\Dense body defect\Hermansky-Pudlak syndrome
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \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-positive oculocutaneous albinism\Hermansky-Pudlak syndrome
• \Disease\Developmental disorder\Congenital malformation\Albinism\Oculocutaneous albinism\Tyrosinase-positive oculocutaneous albinism\Hermansky-Pudlak syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
16343015	Hermansky-Pudlak syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
16344014	Albinism with hemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16345010	Alpha storage pool disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
510207013	Albinism with haemorrhagic diathesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
836776015	Hermansky-Pudlak syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3037196011	Hermansky Pudlak syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
66011000077115	syndrome d'Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892331000172119	syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018441000172116	SHP - syndrome de Hermansky-Pudlak	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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