loading...| Preferred Name |
Oral-facial-digital syndrome |
|
| Synonyms |
Orodigitofacial dysostosis Oral-facial-digital syndrome (disorder) |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/52868006 |
|
| Active |
1 |
|
| altLabel |
Orodigitofacial dysostosis Orofacial-digital syndrome Oral-facial-digital syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
PKy50 |
|
| cui |
C0029294 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/39937001 http://purl.bioontology.org/ontology/SNOMEDCT/82680008 http://purl.bioontology.org/ontology/SNOMEDCT/89545001 |
|
| Has pathological process | ||
| INACTIVATION INDICATOR |
723277005 |
|
| notation |
52868006 |
|
| Occurs in | ||
| prefLabel |
Oral-facial-digital syndrome |
|
| Subset member |
6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 5 CHOOSE Q38.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 722075004 | Oro-facial digital syndrome type 10 | 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 9 CHOOSE Q18.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 11 CHOOSE Q38.6 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 718681002 | Oro-facial digital syndrome type 11 | 6011000124106~MAPRULE~IFA 722105002 | Oro-facial digital syndrome type 5 (disorder) | 900000000000490003~VALUEID~723277005 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 5 CHOOSE Q74.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 10 CHOOSE Q17.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 10 CHOOSE Q74.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 9 CHOOSE Q74.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect (disorder) | 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPADVICE~ALWAYS Q87.0 6011000124106~MAPRULE~IFA 718681002 | Oro-facial digital syndrome type 11 (disorder) | 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 9 CHOOSE Q17.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q04.3 6011000124106~MAPRULE~IFA 722075004 | Oro-facial digital syndrome type 10 (disorder) | 6011000124106~MAPTARGET~Q74.9 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q18.9 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 722105002 | Oro-facial digital syndrome type 5 | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q38.6 6011000124106~MAPADVICE~IF ORO-FACIAL DIGITAL SYNDROME TYPE 11 CHOOSE Q74.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 718680001 | Oro-facial digital syndrome type 9 | 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 900000000000497000~MAPTARGET~PKy50 6011000124106~MAPTARGET~Q17.9 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect | 447562003~MAPTARGET~Q87.0 6011000124106~MAPRULE~IFA 718680001 | Oro-facial digital syndrome type 9 (disorder) | 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/8654005 http://purl.bioontology.org/ontology/SNOMEDCT/23359005 http://purl.bioontology.org/ontology/SNOMEDCT/403855001 |