763213001: Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Finding of dentition\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Conductive deafness, ptosis, skeletal anomalies 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 hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome

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

\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Finding of dentition\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome

\Disorder of head\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies 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 hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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\Conductive deafness, ptosis, skeletal anomalies 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\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Malformation of teeth\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies 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 hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3638186014 Jackson Barr syndrome en Synonym Active Case sensitive SNOMED CT core

3638187017 Conductive deafness, ptosis, skeletal anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3638188010 Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3638189019 A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Hair structure	true	Inferred relationship	Some	3
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Conductive deafness, ptosis, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Oral lesion	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Malformation of teeth	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Dentition	true	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Skin lesion	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Conductive deafness, ptosis, skeletal anomalies syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1

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
3638186014	Jackson Barr syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3638187017	Conductive deafness, ptosis, skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638188010	Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638189019	A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Case sensitive	SNOMED CT core