721208007: Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Ectodermal dysplasia with blindness syndrome (disorder)

\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 (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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness 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\Ectodermal dysplasia with blindness syndrome (disorder)

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

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

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

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

3332067015 Ectodermal dysplasia with blindness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332068013 Ectodermal dysplasia with blindness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402636018 A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402637010 A rare multiple congenital anomalies/dysmorphic syndrome characterised by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332067015	Ectodermal dysplasia with blindness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332068013	Ectodermal dysplasia with blindness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402636018	A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402637010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core