1208614008: Autosomal dominant deafness with onychodystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\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\Degenerative skin disorder\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of nail\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 of skin appendage\Disorder of nail\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disorder of skin\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\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, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Finding of limb structure\Nail finding\Disorder of nail\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\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\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 extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\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 extremity\Disorder of digit\Disorder of nail\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\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\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\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\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\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 of skin appendage\Disorder of nail\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\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\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 of skin\Degenerative skin 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 of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\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 of skin\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\Disorder of auditory system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory 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\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome

\Functional finding\Decline in functional status\Decreased hearing\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Functional finding\Hearing finding\Decreased hearing\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 of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin 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 of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\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 of skin\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\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\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\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\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\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\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 of skin appendage\Disorder of nail\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\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\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\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\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Degenerative disorder\Degenerative skin 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 sensorineural hearing loss\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\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 of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin 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 of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\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 of skin\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\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\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 extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\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 extremity\Disorder of digit\Disorder of nail\Dystrophia unguium\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin 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 of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\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 of skin\Disorder of skin appendage\Disorder of nail\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 of skin\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 of skin\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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, Primitive. 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 Active Case insensitive SNOMED CT core

4965381012 Autosomal dominant deafness with onychodystrophy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4965384016 Autosomal dominant hearing loss, onychodystrophy syndrome en Synonym Active Case insensitive SNOMED CT core

4965385015 DDOD (dominant deafness onychodystrophy) syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant deafness with onychodystrophy syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant deafness with onychodystrophy syndrome	Is a	Deafness with onychodystrophy syndrome	true	Inferred relationship	Some
Autosomal dominant deafness with onychodystrophy syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Autosomal dominant deafness with onychodystrophy syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	4
Autosomal dominant deafness with onychodystrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant deafness with onychodystrophy syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Autosomal dominant deafness with onychodystrophy syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant deafness with onychodystrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant deafness with onychodystrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant deafness with onychodystrophy syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	2
Autosomal dominant deafness with onychodystrophy syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Autosomal dominant deafness with onychodystrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant deafness with onychodystrophy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal dominant deafness with onychodystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Autosomal dominant deafness with onychodystrophy syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
Autosomal dominant deafness with onychodystrophy syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	5
Autosomal dominant deafness with onychodystrophy syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	5
Autosomal dominant deafness with onychodystrophy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Autosomal dominant deafness with onychodystrophy syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Autosomal dominant deafness with onychodystrophy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Autosomal dominant deafness with onychodystrophy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Autosomal dominant deafness with onychodystrophy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Autosomal dominant deafness with onychodystrophy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4965380013	Autosomal dominant deafness with onychodystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4965381012	Autosomal dominant deafness with onychodystrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4965384016	Autosomal dominant hearing loss, onychodystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4965385015	DDOD (dominant deafness onychodystrophy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core