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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/28861008
http://purl.bioontology.org/ontology/SNOMEDCT/28861008
|
|---|---|
| Preferred Name | Crouzon syndrome |
| Definitions |
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.
|
| Synonyms |
Crouzon craniofacial dysostosis
Crouzon's disease
Crouzon syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Crouzon disease is characterized by craniosynostosis and facial hypoplasia. Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
|---|---|
| prefLabel | Crouzon syndrome
|
| altLabel |
Crouzon craniofacial dysostosis
Crouzon's disease
Crouzon syndrome (disorder)
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20020131
|
| cui | C0010273
|
| Has pathological process | |
| CTV3ID | PG04.
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 28861008
|
| INACTIVATION INDICATOR |
900000000000485001
723278000
|
| type | |
| subClassOf | |
| Subset member | 900000000000497000~MAPTARGET~PG04.
6011000124106~MAPADVICE~ALWAYS Q75.1
447562003~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q75.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPTARGET~Q75.1
6011000124106~MAPTARGET~Q75.1
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPRULE~IFA 702361006 | Crouzon syndrome with acanthosis nigricans (disorder) |
6011000124106~MAPTARGET~L83
6011000124106~MAPADVICE~IF CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS CHOOSE L83 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 702361006 | Crouzon syndrome with acanthosis nigricans |
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000490003~VALUEID~900000000000485001
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPADVICE~IF CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS CHOOSE Q75.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPPRIORITY~1
900000000000490003~VALUEID~723278000
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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