773737004: Nephrocystin 3-related Meckel-like 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\NPHP3-related Meckel-like syndrome
• \Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\NPHP3-related Meckel-like syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Multiple system malformation syndrome\NPHP3-related Meckel-like syndrome
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\NPHP3-related Meckel-like syndrome

Status: current. Date: 31-Jan 2019

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3726052018	Meckel syndrome type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726053011	NPHP3-related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726054017	Nephrocystin 3-related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3726055016	Nephrocystin 3-related Meckel-like syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3726056015	Goldston syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726057012	Meckel-like syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726058019	NPHP3 (nephrocystin 3) related Meckel-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726059010	Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3726061018	A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405412015	NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405413013	NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterised by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Congenital syphilitic hepatomegaly

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