721089006: Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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 hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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)\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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

3323449017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402597017 A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402598010 A rare malformative syndrome with dentinogenesis imperfecta, characterised by dentin dysplasia with opalescent discolouration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. 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
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Dentinogenesis imperfecta	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Tooth structure	false	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Tooth structure	false	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Congenital anomaly of tooth (disorder)	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Finding site	Dentin structure	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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
3323449017	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323450017	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402597017	A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402598010	A rare malformative syndrome with dentinogenesis imperfecta, characterised by dentin dysplasia with opalescent discolouration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core