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 |
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 |
|