1208614008: syndroom van autosomaal dominante doofheid met onychodystrofie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Nail finding\Disorder of nail (disorder)\...
• \Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy 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\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy 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 anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \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 nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy 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\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy 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 anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965380013	Autosomal dominant deafness with onychodystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965381012	Autosomal dominant deafness with onychodystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965384016	Autosomal dominant hearing loss, onychodystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965385015	DDOD (dominant deafness onychodystrophy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13603001000146113	DDOD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603011000146110	syndroom van autosomaal dominante doofheid met onychodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603021000146117	syndroom van autosomaal dominante doofheid met onychodystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603031000146115	syndroom van autosomaal dominante doofheid met nageldystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4965391018	A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant.	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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