720636001: Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\...

\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Cholestasis\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Liver finding\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Liver finding\Cholestasis\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Cholestasis\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\General finding of soft tissue\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\General finding of soft tissue\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome

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

\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome

\Disease\Disorder of pigmentation\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate 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 posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal deposits\Retinal pigment deposits\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Cholestasis with pigmentary retinopathy and cleft palate syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate 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\Cholestasis with pigmentary retinopathy and cleft palate syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3321615010 Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321616011 Cholestasis with pigmentary retinopathy and cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core

3321617019 Hardikar syndrome en Synonym Active Case sensitive SNOMED CT core

3321618012 A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Deposition	false	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	3
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Lip structure	true	Inferred relationship	Some	3
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	4
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	4
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Urinary system structure	true	Inferred relationship	Some	5
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Liver structure	true	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Pigment deposition	true	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Urinary system structure	false	Inferred relationship	Some	9
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Cholestasis	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Cleft palate with cleft lip	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Congenital anomaly of liver	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Retinal pigment deposits	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Is a	Congenital malformation of the urinary system	true	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Lip structure	false	Inferred relationship	Some	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	8
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	9
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Deposition	false	Inferred relationship	Some	10
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	10
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Liver structure	false	Inferred relationship	Some	7
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	8
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Lip structure	false	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321615010	Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321616011	Cholestasis with pigmentary retinopathy and cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321617019	Hardikar syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321618012	A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated.	en	Definition	Active	Case sensitive	SNOMED CT core