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

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

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

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

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Dentinogenesis imperfecta\Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

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

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

\General finding of observation of patient\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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3323451018 Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Congenital anomaly of tooth	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Dentin structure	true	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Dentinogenesis imperfecta	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Interprets	Hearing	true	Inferred relationship	Some	2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3323449017	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323450017	Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323451018	Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core