Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3499466016 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3499467013 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5403789016 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403790013 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterised by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499466016 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3499467013 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3500003016 |
Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403789016 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403790013 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterised by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
539121000274111 |
Syndrom mit spastischer Paraplegie, Grünem Star und Intelligenzminderung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
603371000274110 |
Syndrom mit spastischer Paraplegie, Glaukom und Intelligenzminderung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3444231001000113 |
Spastische Paraplegie - Glaukom - Intelligenzminderung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
913781000172116 |
syndrome de paraplégie spastique-glaucome-déficience intellectuelle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
913781000172116 |
syndrome de paraplégie spastique-glaucome-déficience intellectuelle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
539121000274111 |
Syndrom mit spastischer Paraplegie, Grünem Star und Intelligenzminderung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
603371000274110 |
Syndrom mit spastischer Paraplegie, Glaukom und Intelligenzminderung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3444231001000113 |
Spastische Paraplegie - Glaukom - Intelligenzminderung |
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, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
retard mental |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Angeborenes Glaukom |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Complicated hereditary spastic paraplegia (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Spinal cord structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Cerebellar structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Spinal cord structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Autosomal recessive hereditary spastic paraplegia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Chronic mental disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Clinical course |
Progressive |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
Glaucoma (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Eye structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
Movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Structure of right lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
Movement observable |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Finding site |
Structure of left lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Has interpretation |
Absent |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|