765325002: Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Neurological lesion\Leucodystrophy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Hearing finding (finding)\Decreased hearing (finding)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Degenerative disorder\Congenital degeneration of nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Degenerative disorder\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral demyelinating neuropathy\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Skin hypopigmented\Congenital deficiency of pigment of skin\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Waardenburg syndrome\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (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\Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3657911019	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657912014	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657913016	Neurologic Waardenburg Shah syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3657914010	PCWH - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3664249018	Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (reduced saliva production, sweating and tearing, and bradycardia and arrhythmia) may also be present. Delayed white matter myelination is present on brain MRI, and may also be responsible for neuropathy at the peripheral level. Hirschsprung disease is sometimes absent. Most of the cases are caused by mutations involving the SOX10 gene (22q13.1): either a large deletion or point mutation located in the last two exons.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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