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

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NPHP3-related Meckel-like syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	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 (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 (body structure)	true	Inferred relationship	Some	1
NPHP3-related Meckel-like syndrome	Pathological process (attribute)	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 (disorder)	true	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	Congenital cystic 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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
NPHP3-related Meckel-like syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Characteristic

Refinability

Reference Sets

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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4214871000052111	NPHP3-relaterat Meckel-liknande syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)