771149000: Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\...
• \Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Intelligence finding\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Neurodevelopmental disorder\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)

Status: current. Date: 31-Jan 2019

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3704578010	Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704579019	Hepatic fibrosis, renal cyst, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704580016	Thompson Baraitser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704581017	A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704582012	A rare syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405012011	Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405013018	Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987.	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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