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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/51485001
http://purl.bioontology.org/ontology/SNOMEDCT/51485001
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Preferred Name | Congenital coloboma of iris |
Synonyms |
Congenital coloboma of iris (disorder)
Notched iris
Cleft iris
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
Congenital coloboma of iris (disorder)
Notched iris
Cleft iris
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prefLabel | Congenital coloboma of iris
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000448009
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notation | 51485001
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Effective time | 20170731
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Active | 1
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Has finding site | |
INACTIVATION INDICATOR | 900000000000495008
|
Has pathological process | |
subClassOf | |
Semantic type UMLS property | |
type | |
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
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DEFINITION STATUS ID | 900000000000073002
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tui | T019
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CTV3ID | XUSsi
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Occurs in | |
cui | C0266551
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Has associated morphology |
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