Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3498180013 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498181012 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498182017 |
Balikova Vermeesch syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403240013 |
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403241012 |
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3498180013 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498181012 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498182017 |
Balikova Vermeesch syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3499907019 |
Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403240013 |
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403241012 |
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
602751000274110 |
Balikova-Vermeesch-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3415551001000114 |
Mikrotie-Augenkolobom-imperforierter nasolakrimaler Gang-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
602751000274110 |
Balikova-Vermeesch-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3415551001000114 |
Mikrotie-Augenkolobom-imperforierter nasolakrimaler Gang-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 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Microtia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Congenital ocular coloboma |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Atresia of nasolacrimal duct |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Congenital smallness |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
External ear structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
Nasolacrimal duct structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Congenital smallness |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
External ear structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
Eye structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
Nasolacrimal duct structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Atresia (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|