Preferred Name |
obsolete_Saethre-Chotzen syndrome |
|
Synonyms |
SCS ACS3 Acrocephalosyndactyly type 3 |
|
Definitions |
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_794 |
|
Obsolete |
true |
|
database_cross_reference |
UMLS:C0175699 OMIM:101400 OMIM:180750 ICD10:Q87.0 |
|
definition |
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. |
|
definition_citation |
orphanet |
|
deprecated |
true |
|
has_exact_synonym |
Acrocephalosyndactyly type 3 ACS3 SCS |
|
label |
obsolete_Saethre-Chotzen syndrome |
|
obsoleted_in_version |
3.41.0 |
|
prefLabel |
obsolete_Saethre-Chotzen syndrome |
|
reason_for_obsolescence |
Replaced with Mondo term. |
|
term replaced by | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_794 | ORDO | SAME_URI |