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1216942009: Cerebral ventriculomegaly, cystic kidney disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5033755019 Congenital nephrosis, cerebral ventriculomegaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5033756018 VMCKD - ventriculomegaly with cystic kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5033757010 Cerebral ventriculomegaly, cystic kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5033758017 Cerebral ventriculomegaly, cystic kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399900018 A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399901019 A rare genetic syndrome with a central nervous system malformation as a major feature, characterised by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, grey matter heterotopias, and cardiac malformations, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebral ventriculomegaly, cystic kidney disease Is a Congenital cerebral ventriculomegaly (disorder) true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a Developmental hereditary disorder true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a Hereditary disorder of nervous system true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a Congenital cystic kidney disease true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Occurrence Congenital true Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease Finding site Kidney structure true Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease Associated morphology Polycystic change true Inferred relationship Some 1
Cerebral ventriculomegaly, cystic kidney disease Occurrence Congenital true Inferred relationship Some 2
Cerebral ventriculomegaly, cystic kidney disease Finding site Entire ventricle of brain true Inferred relationship Some 2
Cerebral ventriculomegaly, cystic kidney disease Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 2
Cerebral ventriculomegaly, cystic kidney disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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