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773280009: Hydrocephalus, blue sclera, nephropathy 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
3722879018 Hydrocephalus, blue sclera, nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722880015 Daentl Townsend Siegel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722882011 Hydrocephalus, blue sclera, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722881016 A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722879018 Hydrocephalus, blue sclera, nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722880015 Daentl Townsend Siegel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722882011 Hydrocephalus, blue sclera, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722881016 A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
544861000274111 Daentl-Townsend-Siegel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603771000274111 Syndrom mit Hydrozephalus, blauer Sklera und Nephropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385061001000114 Hydrozephalus - blaue Sklera - Nephropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246941000241118 syndrome d'hydrocéphalie, sclérotique bleue et néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246951000241115 syndrome de Daentl-Townsend-Siegel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246941000241118 syndrome d'hydrocéphalie, sclérotique bleue et néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6246951000241115 syndrome de Daentl-Townsend-Siegel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
544861000274111 Daentl-Townsend-Siegel-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603771000274111 Syndrom mit Hydrozephalus, blauer Sklera und Nephropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385061001000114 Hydrozephalus - blaue Sklera - Nephropathie 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
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Finding site Urinary system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Finding site Scleral structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Is a Congenital malformation of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Is a Blue sclera (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, blue sclera, nephropathy syndrome (disorder) Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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