loading...| Preferred Name |
Leber's amaurosis |
|
| Synonyms |
Congenital retinal blindness Leber congenital amaurosis |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/193413001 |
|
| Active |
1 |
|
| altLabel |
Congenital retinal blindness Leber amaurosis Leber's amaurosis (disorder) CRB - Congenital retinal blindness Leber congenital amaurosis |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
F427J |
|
| cui |
C0339527 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| notation |
193413001 |
|
| Occurs in | ||
| prefLabel |
Leber's amaurosis |
|
| Subset member |
900000000000497000~MAPTARGET~F427J 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, DIABETES INSIPIDUS SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, DIABETES INSIPIDUS SYNDROME CHOOSE H35.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS H35.5 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, DIABETES INSIPIDUS SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~G82.50 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, DIABETES INSIPIDUS SYNDROME CHOOSE E23.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, DIABETES INSIPIDUS SYNDROME CHOOSE G82.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~H35.50 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~E23.2 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPGROUP~4 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~ALWAYS H35.50 447562003~MAPTARGET~H35.5 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 732246009 | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |