719910004: Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318421011	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318429013	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318430015	Tricho-retino-dento-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318431016	Bork syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402267012	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402268019	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterised by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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