773737004: Nephrocystin 3-related Meckel-like syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726052018 Meckel syndrome type 7 en Synonym Active Case sensitive SNOMED CT core

3726053011 NPHP3-related Meckel-like syndrome en Synonym Active Case sensitive SNOMED CT core

3726054017 Nephrocystin 3-related Meckel-like syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3726055016 Nephrocystin 3-related Meckel-like syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3726056015 Goldston syndrome en Synonym Active Case sensitive SNOMED CT core

3726057012 Meckel-like syndrome type 1 en Synonym Active Case sensitive SNOMED CT core

3726058019 NPHP3 (nephrocystin 3) related Meckel-like syndrome en Synonym Active Case sensitive SNOMED CT core

3726059010 Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome en Synonym Active Initial character case insensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NPHP3-related Meckel-like syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
NPHP3-related Meckel-like syndrome	Finding site	Liver structure	true	Inferred relationship	Some	3
NPHP3-related Meckel-like syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Associated morphology	Polycystic change	true	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	1
NPHP3-related Meckel-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
NPHP3-related Meckel-like syndrome	Associated morphology	Fibrosis	true	Inferred relationship	Some	3
NPHP3-related Meckel-like syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
NPHP3-related Meckel-like syndrome	Is a	Congenital hepatic fibrosis	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
NPHP3-related Meckel-like syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Polycystic kidney disease	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Characteristic

Refinability

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726052018	Meckel syndrome type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
3726053011	NPHP3-related Meckel-like syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726054017	Nephrocystin 3-related Meckel-like syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3726055016	Nephrocystin 3-related Meckel-like syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3726056015	Goldston syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726057012	Meckel-like syndrome type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3726058019	NPHP3 (nephrocystin 3) related Meckel-like syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726059010	Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome	en	Synonym	Active	Initial character case insensitive	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	Active	Case sensitive	SNOMED CT core