loading...| Preferred Name |
Congenital coloboma of iris |
|
| Synonyms |
Congenital coloboma of iris (disorder) Cleft iris |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/51485001 |
|
| Active |
1 |
|
| altLabel |
Congenital coloboma of iris (disorder) Notched iris Cleft iris |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XUSsi |
|
| cui |
C0266551 |
|
| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20170731 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000495008 |
|
| notation |
51485001 |
|
| Occurs in | ||
| prefLabel |
Congenital coloboma of iris |
|
| Subset member |
447562003~MAPTARGET~Q13.0 6011000124106~MAPTARGET~Q13.4 6011000124106~MAPTARGET~Q37.9 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~M26.09 6011000124106~MAPADVICE~IF COLOBOMATOUS MACROPHTHALMIA WITH MICROCORNEA SYNDROME CHOOSE Q11.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q12.0 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF COLOBOMATOUS MACROPHTHALMIA WITH MICROCORNEA SYNDROME CHOOSE Q13.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 717887003 | Biemond syndrome type 2 | 6011000124106~MAPADVICE~IF FAMILIAL PROGRESSIVE RETINAL DYSTROPHY, IRIS COLOBOMA, CONGENITAL CATARACT SYNDROME CHOOSE H35.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000490003~VALUEID~900000000000495008 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~Q11.3 6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPTARGET~Q13.0 6011000124106~MAPTARGET~Q87.89 447562003~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q04.0 6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 1172636006 | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome | 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF UVEAL COLOBOMA WITH CLEFT LIP AND PALATE AND INTELLECTUAL DISABILITY SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF FAMILIAL PROGRESSIVE RETINAL DYSTROPHY, IRIS COLOBOMA, CONGENITAL CATARACT SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~H35.50 900000000000526001~TARGETCOMPONENT~9446007 6011000124106~MAPADVICE~IF UVEAL COLOBOMA WITH CLEFT LIP AND PALATE AND INTELLECTUAL DISABILITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q13.0 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF BIEMOND SYNDROME TYPE 2 CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF UVEAL COLOBOMA WITH CLEFT LIP AND PALATE AND INTELLECTUAL DISABILITY SYNDROME CHOOSE Q37.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS Q13.0 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF UVEAL COLOBOMA WITH CLEFT LIP AND PALATE AND INTELLECTUAL DISABILITY SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000527005~TARGETCOMPONENT~9446007 6011000124106~MAPGROUP~3 6011000124106~MAPADVICE~IF COLOBOMATOUS MACROPHTHALMIA WITH MICROCORNEA SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 719042007 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome | 900000000000509007~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~XUSsi 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF FAMILIAL PROGRESSIVE RETINAL DYSTROPHY, IRIS COLOBOMA, CONGENITAL CATARACT SYNDROME CHOOSE Q12.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 1179296003 | Colobomatous macrophthalmia with microcornea syndrome | 6011000124106~MAPRULE~IFA 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | 6011000124106~MAPADVICE~IF BIEMOND SYNDROME TYPE 2 CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
|
| tui |
T019 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/93390002 http://purl.bioontology.org/ontology/SNOMEDCT/128985003 http://purl.bioontology.org/ontology/SNOMEDCT/117831000119104 |