Experimental Factor Ontology

Last uploaded: April 15, 2024
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

http://purl.obolibrary.org/obo/MONDO_0007042

subClassOf

http://www.w3.org/2002/07/owl#Thing

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_794 ORDO SAME_URI