1010636000: syndroom van Waardenburg type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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 anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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 anomaly of hair\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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 anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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)\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome type 2 (disorder)
• \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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (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)\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (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\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Waardenburg syndrome type 2 (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\Waardenburg syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Waardenburg syndrome type 2 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Waardenburg syndrome type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4213386014	Waardenburg syndrome type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213387017	Waardenburg syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5143462010	Waardenburg syndrome type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12125841000146119	syndroom van Waardenburg type 2 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12125851000146116	syndroom van Waardenburg type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12248921000146112	Waardenburg-syndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5143467016	An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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