Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3704807012 |
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704809010 |
Imperforate oropharynx, costovertebral anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704810017 |
Seghers syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704808019 |
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704807012 |
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704809010 |
Imperforate oropharynx, costovertebral anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704810017 |
Seghers syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704808019 |
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3427821001000116 |
Oropharynx imperforatus - costovertebrale Fehlbildungen |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
941421000172116 |
syndrome d'imperforation de l'oropharynx-anomalies costovertébrales |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
995991000172119 |
syndrome de Seghers |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
941421000172116 |
syndrome d'imperforation de l'oropharynx-anomalies costovertébrales |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
995991000172119 |
syndrome de Seghers |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3427821001000116 |
Oropharynx imperforatus - costovertebrale Fehlbildungen |
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 |
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Congenital atresia of pharynx |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Congenital anomaly of rib |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Finding site |
Bone structure of rib |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Congenital anomaly of spine |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Lesion of oropharynx (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Finding of vertebra (finding) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Dysostosis |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Congenital anomaly of head |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Finding site |
Bone structure of spine |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Finding site |
Oropharyngeal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Congenital atresia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Finding site |
Bone structure of spine |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Finding site |
Bone structure of rib |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Is a |
Disorder of vertebral column (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) |
Associated morphology |
Atresia (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|