Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3439365018 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3439366017 |
Spastic paraplegia, optic atrophy, neuropathy syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3439367014 |
SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403410013 |
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403411012 |
A rare, complex type of hereditary spastic paraplegia characterised by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3439365018 |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3439366017 |
Spastic paraplegia, optic atrophy, neuropathy syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3439367014 |
SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3439368016 |
A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403410013 |
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403411012 |
A rare, complex type of hereditary spastic paraplegia characterised by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
536121000274115 |
SPOAN |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3388401001000112 |
Spastische Paraplegie-Optikusatrophie-Neuropathie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
536121000274115 |
SPOAN |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3388401001000112 |
Spastische Paraplegie-Optikusatrophie-Neuropathie-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, optic atrophy, neuropathy syndrome (disorder) |
Is a |
Hereditary optic atrophy (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
Complicated hereditary spastic paraplegia (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
Hereditary motor and sensory neuropathy (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
Congenital atrophy of optic nerve (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Peripheral nervous system structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Spinal cord structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Cerebellar structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
Primary atrophy |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Optic nerve structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Spinal cord structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Clinical course |
Progressive |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Is a |
SPOAN and SPOAN-related disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Optic nerve structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Associated morphology |
Primary atrophy |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Interprets |
Movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Structure of left lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Finding site |
Structure of right lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Interprets |
Movement observable |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) |
Has interpretation |
Absent |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|