Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3760319012 |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760320018 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760321019 |
Rasmussen Johnsen Thomsen syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760324010 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760319012 |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760320018 |
External auditory canal atresia, vertical talus, hypertelorism syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3760321019 |
Rasmussen Johnsen Thomsen syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3760324010 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3410631001000111 |
Gehörgangsatresie-vertikaler Talus-Hypertelorismus-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198881000241111 |
syndrome d'atrésie du méat acoustique externe, talus vertical et hypertélorisme |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198891000241113 |
syndrome de Rasmussen-Johnsen-Thomsen |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198901000241114 |
syndrome d'atrésie du conduit auditif externe, pied en piolet et hypertélorisme |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198881000241111 |
syndrome d'atrésie du méat acoustique externe, talus vertical et hypertélorisme |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198891000241113 |
syndrome de Rasmussen-Johnsen-Thomsen |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6198901000241114 |
syndrome d'atrésie du conduit auditif externe, pied en piolet et hypertélorisme |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3410631001000111 |
Gehörgangsatresie-vertikaler Talus-Hypertelorismus-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 |
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Congenital deformity of foot and ankle (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
Sphenoid bone structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Hypertelorism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
External auditory canal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Congenital valgus deformity of foot |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Congenital vertical talus |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Congenital atresia of external auditory canal |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
Ankle region structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Deformity (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
Foot structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Valgus deformity (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Is a |
Congenital anomaly of bone and joint |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Dorsal dislocation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
Structure of talonavicular joint (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Finding site |
Structure of longitudinal arch of foot |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Flattening deformity |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) |
Associated morphology |
Atresia (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|