721085000: Deafness, enamel hypoplasia, nail defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome

\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, enamel hypoplasia, nail defect syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, enamel hypoplasia, nail defect syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, enamel hypoplasia, nail defect syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, enamel hypoplasia, nail defect syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Deafness, enamel hypoplasia, nail defect syndrome

\Functional finding\Decline in functional status\Decreased hearing\Deafness, enamel hypoplasia, nail defect syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, enamel hypoplasia, nail defect syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, enamel hypoplasia, nail defect syndrome
\Functional finding\Hearing finding\Decreased hearing\Deafness, enamel hypoplasia, nail defect syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Deafness, enamel hypoplasia, nail defect 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, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

\Disease\Genetic disease\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Deafness, enamel hypoplasia, nail defect 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, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Deafness, enamel hypoplasia, nail defect 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, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect 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\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Deafness, enamel hypoplasia, nail defect syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323406018 Deafness, enamel hypoplasia, nail defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323407010 Deafness, enamel hypoplasia, nail defect syndrome en Synonym Active Case insensitive SNOMED CT core

3323408017 Heimler syndrome en Synonym Active Case sensitive SNOMED CT core

3323409013 This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3323410015 This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Deafness, enamel hypoplasia, nail defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Deafness, enamel hypoplasia, nail defect syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Deafness, enamel hypoplasia, nail defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	2
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	7
Deafness, enamel hypoplasia, nail defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Decreased hearing	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	5
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Enamel hypoplasia	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Ectodermal dysplasia with tooth-nail defects	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Ear structure	false	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Deafness, enamel hypoplasia, nail defect syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Nail structure	false	Inferred relationship	Some	8
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Deafness, enamel hypoplasia, nail defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	10
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	10
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7
Deafness, enamel hypoplasia, nail defect syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	9
Deafness, enamel hypoplasia, nail defect syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	9

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323406018	Deafness, enamel hypoplasia, nail defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323407010	Deafness, enamel hypoplasia, nail defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323408017	Heimler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323409013	This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3323410015	This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core