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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\...
• \Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Cholestasis\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Finding of trunk structure\Liver finding\Cholestasis\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Orofacial cleft (disorder)\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Multiple system malformation syndrome\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)

Status: current. Date: 31-Jan 2017

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321615010	Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321616011	Cholestasis with pigmentary retinopathy and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321617019	Hardikar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402444013	A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402445014	A rare multiple congenital malformation syndrome, characterised by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastro-oesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

US English

Congenital syphilitic hepatomegaly

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