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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
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
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
7657621000241119 syndrome de dysplasie réno-hépato-pancréatique et kystes de Dandy-Walker fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7657631000241117 syndrome de Goldston fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7657641000241110 syndrome Meckel-like associé à NPHP3 (néphrocystine-3) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432261001000114 NPHP3-assoziiertes Meckel-ähnliches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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