719042007: Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\General finding of soft tissue\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\General finding of soft tissue\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Uveal coloboma with cleft lip and palate and 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\Uveal coloboma with cleft lip and palate and intellectual disability syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3314770015 Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3314771016 Uveal coloboma with cleft lip and palate and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3314772011 This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

3314773018 This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Cleft palate with cleft lip	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Iris structure	false	Inferred relationship	Some	4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Lip structure	false	Inferred relationship	Some	5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Coloboma of iris	false	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Is a	Congenital coloboma of iris	true	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Lip structure	true	Inferred relationship	Some	1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Iris structure	true	Inferred relationship	Some	2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Lip structure	false	Inferred relationship	Some	6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome	Finding site	Iris structure	false	Inferred relationship	Some	1
Uveal coloboma with cleft lip and palate and 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

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314770015	Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314771016	Uveal coloboma with cleft lip and palate and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314772011	This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
3314773018	This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core