Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3498725011 |
Spastic paraplegia, nephritis, deafness syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498726012 |
Spastic paraplegia, nephritis, deafness syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4673148019 |
Fitzsimmons Walson Mellor syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403732015 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403733013 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterised by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3498725011 |
Spastic paraplegia, nephritis, deafness syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498726012 |
Spastic paraplegia, nephritis, deafness syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498727015 |
Fitzsimmons Watson Mellor syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
4673148019 |
Fitzsimmons Walson Mellor syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499968010 |
Syndrome with characteristics of variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. It has been described in six members of a family. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403732015 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403733013 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterised by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3414431001000117 |
Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3414431001000117 |
Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom |
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 |
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Autosomal dominant hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Sensorineural hearing loss |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Congenital hearing disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Complicated hereditary spastic paraplegia (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Hearing loss associated with syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Hereditary nephropathy (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
Hearing |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
entité observable fonctionnelle |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Ear structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Kidney structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Spinal cord structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Cerebellar structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Spinal cord structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Congenital sensorineural hearing loss (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Spinal cord structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Disorder of ear |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Chronic disease of genitourinary system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Chronic disease of ear (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Autosomal dominant hereditary spastic paraplegia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Clinical course |
Progressive |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Decreased hearing |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Has interpretation |
Decreased |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
Movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Structure of right lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Finding site |
Structure of left lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Interprets |
Movement observable |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Has interpretation |
Absent |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Chronic deafness |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|