loading...| Preferred Name |
Congenital aniridia |
|
| Synonyms |
Irideremia Aniridia |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/69278003 |
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| Active |
1 |
|
| altLabel |
Irideremia Irideraemia Congenital absence of iris Congenital aniridia (disorder) Aplasia of iris Agenesis of iris Aniridia |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
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| CTV3ID |
P343. |
|
| cui |
C0003076 |
|
| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20020131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
69278003 |
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| Occurs in | ||
| prefLabel |
Congenital aniridia |
|
| Subset member |
6011000124106~MAPADVICE~IF CHROMOSOME 11P13 DELETION SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER 6011000124106~MAPTARGET~Q60.2 6011000124106~MAPRULE~IFA 4135001 | 11p partial monosomy syndrome (disorder) | 900000000000497000~MAPTARGET~P343. 6011000124106~MAPADVICE~IF POTOCKI-SHAFFER SYNDROME CHOOSE Q93.59 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 720467005 | Aniridia and absent patella syndrome (disorder) | 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~Q93.89 6011000124106~MAPADVICE~IF POTOCKI-SHAFFER SYNDROME CHOOSE Q93.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE C64.9 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE E66.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ANIRIDIA AND INTELLECTUAL DISABILITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF ANIRIDIA AND ABSENT PATELLA SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF 11P PARTIAL MONOSOMY SYNDROME CHOOSE Q93.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q93.59 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF CHROMOSOME 11P13 DELETION SYNDROME CHOOSE C64.9 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q52.9 6011000124106~MAPTARGET~Q74.1 6011000124106~MAPADVICE~IF ANIRIDIA AND INTELLECTUAL DISABILITY SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPRULE~IFA 231956007 | Traumatic aniridia (disorder) | 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF GILLESPIE SYNDROME CHOOSE Q04.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF WAGR SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 6011000124106~MAPRULE~IFA 702346005 | Chromosome 11p11.2 deletion syndrome (disorder) | 6011000124106~MAPTARGET~F79 6011000124106~MAPADVICE~IF WAGR SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER 6011000124106~MAPTARGET~Q10.0 447562003~MAPADVICE~IF CHROMOSOME 11P11.2 DELETION SYNDROME CHOOSE Q93.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 447562003~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF ANIRIDIA AND ABSENT PATELLA SYNDROME CHOOSE Q74.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF ANIRIDIA AND INTELLECTUAL DISABILITY SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF CHROMOSOME 11P11.2 DELETION SYNDROME CHOOSE Q93.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~Q13.1 6011000124106~MAPRULE~IFA 720987001 | Aniridia, ptosis, intellectual disability, familial obesity syndrome | 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 720987001 | Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) | 6011000124106~MAPTARGET~Q55.9 6011000124106~MAPADVICE~IF CHROMOSOME 11P13 DELETION SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~ 6011000124106~MAPADVICE~IF ANIRIDIA, RENAL AGENESIS, PSYCHOMOTOR RETARDATION SYNDROME CHOOSE Q60.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF CHROMOSOME 11P13 DELETION SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER 447562003~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | AND IFA 248153007 | Male (finding) | 6011000124106~MAPRULE~IFA 4135001 | 11p partial monosomy syndrome | 447562003~MAPADVICE~SOURCE SNOMED CONCEPT IS AMBIGUOUS 6011000124106~MAPTARGET~Q13.1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~IF 11P PARTIAL MONOSOMY SYNDROME CHOOSE Q87.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 715215007 | Chromosome 11p13 deletion syndrome (disorder) | AND IFA 248153007 | Male (finding) | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPRULE~IFA 720468000 | Aniridia and intellectual disability syndrome | 6011000124106~MAPRULE~IFA 715215007 | Chromosome 11p13 deletion syndrome (disorder) | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF ANIRIDIA, RENAL AGENESIS, PSYCHOMOTOR RETARDATION SYNDROME CHOOSE R41.843 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E66.8 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | AND IFA 248152002 | Female (finding) | 447562003~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 733116005 | Aniridia, renal agenesis, psychomotor retardation syndrome | 447562003~MAPRULE~IFA 4135001 | 11p partial monosomy syndrome (disorder) | 6011000124106~MAPTARGET~Q04.8 447562003~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q93.5 6011000124106~MAPRULE~IFA 720468000 | Aniridia and intellectual disability syndrome (disorder) | 6011000124106~MAPADVICE~ALWAYS Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPPRIORITY~1 6011000124106~MAPPRIORITY~6 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | 6011000124106~CORRELATIONID~447561005 447562003~MAPTARGET~Q93.5 6011000124106~MAPRULE~IFA 720467005 | Aniridia and absent patella syndrome | 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 253176002 | Gillespie syndrome | 447562003~MAPADVICE~ALWAYS Q13.1 447562003~MAPCATEGORYID~447640006 6011000124106~MAPADVICE~IF ANIRIDIA, RENAL AGENESIS, PSYCHOMOTOR RETARDATION SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 715215007 | Chromosome 11p13 deletion syndrome (disorder) | AND IFA 248152002 | Female (finding) | 447562003~MAPPRIORITY~2 6011000124106~MAPRULE~TRUE 447562003~MAPRULE~IFA 702346005 | Chromosome 11p11.2 deletion syndrome (disorder) | 6011000124106~MAPGROUP~3 6011000124106~MAPRULE~IFA 702346005 | Potocki-Shaffer syndrome | 6011000124106~MAPADVICE~IF CHROMOSOME 11P13 DELETION SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~C64.9 6011000124106~MAPTARGET~R41.843 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
|
| tui |
T019 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |