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737562008: Multicystic renal dysplasia (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3528306010 Multicystic renal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528307018 Multicystic dysplastic kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528308011 Multicystic renal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528309015 MCKD - Multicystic kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403899019 A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3528306010 Multicystic renal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528307018 Multicystic dysplastic kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528308011 Multicystic renal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3528309015 MCKD - Multicystic kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3528310013 A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403899019 A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3380971001000113 Nierendysplasie, multizystische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5497461000241117 dysplasie multikystique du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5497461000241117 dysplasie multikystique du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3380971001000113 Nierendysplasie, multizystische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multicystic renal dysplasia Is a Multiple renal cysts (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Multicystic renal dysplasia Is a Congenital renal cyst (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Multicystic renal dysplasia Associated morphology Multiple cysts true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multicystic renal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multicystic renal dysplasia Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multicystic renal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multicystic renal dysplasia Is a Congenital anomaly of the kidney false Inferred relationship Existential restriction modifier (core metadata concept)
Multicystic renal dysplasia Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multicystic renal dysplasia Is a Renal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Multicystic renal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multicystic renal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multicystic renal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Multicystic renal dysplasia Is a Cystic dysplasia of kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Bilateral multicystic renal dysplasia (disorder) Is a True Multicystic renal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Is a True Multicystic renal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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