loading...| Preferred Name |
Crouzon syndrome |
|
| Synonyms |
Crouzon craniofacial dysostosis Crouzon syndrome (disorder) |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/28861008 |
|
| Active |
1 |
|
| altLabel |
Crouzon craniofacial dysostosis Crouzon's disease Crouzon syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
PG04. |
|
| cui |
C0010273 |
|
| definition |
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. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000485001 723278000 |
|
| notation |
28861008 |
|
| Occurs in | ||
| prefLabel |
Crouzon syndrome |
|
| Subset member |
900000000000497000~MAPTARGET~PG04. 6011000124106~MAPADVICE~ALWAYS Q75.1 447562003~MAPRULE~TRUE 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 447562003~MAPADVICE~ALWAYS Q75.1 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/65094009 |