Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3756887017 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3756888010 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3756889019 |
Levic Stefanovic Nikolic syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3756890011 |
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3756887017 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3756888010 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3756889019 |
Levic Stefanovic Nikolic syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3756890011 |
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
545851000274114 |
Levic-Stefanovic-Nicolic-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3420031001000113 |
Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6486131000241117 |
syndrome d'ophtalmoplégie, déficience intellectuelle et langue scrotale |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6486141000241110 |
syndrome de Levic-Stefanovic-Nikolic |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6486131000241117 |
syndrome d'ophtalmoplégie, déficience intellectuelle et langue scrotale |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6486141000241110 |
syndrome de Levic-Stefanovic-Nikolic |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
545851000274114 |
Levic-Stefanovic-Nicolic-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3420031001000113 |
Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-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 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Congenital anomaly of tongue (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Congenital plicated tongue (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
External ophthalmoplegia (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Congenital nuclear ophthalmoplegia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Eyelid structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Structure of dorsum of anterior tongue |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Associated morphology |
Fissure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Medial longitudinal fasciculus structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Congenital structural abnormality of orbit proper (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Medial longitudinal fasciculus structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
Structure of extraocular muscle |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Congenital anomaly of musculoskeletal system |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Combined malformation of central nervous system and skeletal muscle |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Adaptation behavior |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
Paralysis of tongue |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
Movement observable |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Has interpretation |
Absent |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|