721208007: Ectodermal dysplasia with blindness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Ectodermal dysplasia with blindness syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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 hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Ectodermal dysplasia with blindness syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Ectodermal dysplasia with blindness syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Ectodermal dysplasia with blindness syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ectodermal dysplasia with blindness syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Ectodermal dysplasia with blindness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia with blindness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ectodermal dysplasia with blindness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3332067015 Ectodermal dysplasia with blindness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3332068013 Ectodermal dysplasia with blindness syndrome en Synonym Active Case insensitive SNOMED CT core

3332069017 Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia with blindness syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia with blindness syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia with blindness syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
Ectodermal dysplasia with blindness syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Ectodermal dysplasia with blindness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ectodermal dysplasia with blindness syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with blindness syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ectodermal dysplasia with blindness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ectodermal dysplasia with blindness syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Finding site	Hair structure	true	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Ectodermal dysplasia with blindness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Ectodermal dysplasia with blindness syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Ectodermal dysplasia with blindness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Ectodermal dysplasia with blindness syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome	Finding site	Eye structure	false	Inferred relationship	Some	7
Ectodermal dysplasia with blindness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3332067015	Ectodermal dysplasia with blindness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332068013	Ectodermal dysplasia with blindness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332069017	Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core