loading...| Preferred Name |
Nephronophthisis |
|
| Synonyms |
Autosomal recessive medullary cystic disease Familial juvenile nephronophthisis |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/204958008 |
|
| Active |
1 |
|
| altLabel |
Autosomal recessive medullary cystic disease Familial juvenile medullary cystic kidney disease Nephronophthisis (disorder) Familial juvenile nephronophthisis |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
PD120 |
|
| cui |
C1855681 C0687120 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| INACTIVATION INDICATOR |
900000000000485001 |
|
| notation |
204958008 |
|
| prefLabel |
Nephronophthisis |
|
| Subset member |
6011000124106~MAPTARGET~Q15.9 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect (disorder) | 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~ALWAYS Q61.5 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 717187000 | Nephronophthisis hepatic fibrosis syndrome (disorder) | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~Q61.4 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF BOICHIS SYNDROME CHOOSE K74.00 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q63.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF RENAL DYSPLASIA AND RETINAL APLASIA CHOOSE Q14.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q04.3 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q15.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~Q61.5 900000000000490003~VALUEID~900000000000485001 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~IF NEPHRONOPHTHISIS HEPATIC FIBROSIS SYNDROME CHOOSE K74.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF BOICHIS SYNDROME CHOOSE Q61.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~K74.0 6011000124106~MAPRULE~OTHERWISE TRUE 447562003~MAPADVICE~ALWAYS Q61.5 6011000124106~MAPADVICE~IF RENAL DYSPLASIA AND RETINAL APLASIA CHOOSE Q61.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BOICHIS SYNDROME CHOOSE K74.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q63.9 6011000124106~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 236531005 | Renal dysplasia and retinal aplasia | 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q14.1 6011000124106~MAPRULE~IFA 717187000 | Boichis syndrome | 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPTARGET~K74.00 6011000124106~MAPTARGET~Q61.5 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect | 900000000000497000~MAPTARGET~PD120 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/367591000119105 |