loading...| Preferred Name |
Hereditary spherocytosis |
|
| Synonyms |
Minkowsky-Chauffard syndrome Familial spherocytosis |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/55995005 |
|
| Active |
1 |
|
| altLabel |
Minkowsky-Chauffard syndrome HS - Hereditary spherocytosis Congenital spherocytosis Familial acholuric jaundice Congenital spherocytic hemolytic anemia Hereditary spherocytosis (disorder) Congenital spherocytic haemolytic anaemia Familial spherocytosis |
|
| Associated finding of | ||
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
D100. |
|
| cui |
C0037889 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| interprets |
http://purl.bioontology.org/ontology/SNOMEDCT/441689006 |
|
| notation |
55995005 |
|
| prefLabel |
Hereditary spherocytosis |
|
| Subset member |
6011000124106~MAPADVICE~IF MILD HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 32648007 | Mild hereditary spherocytosis due to spectrin deficiency | 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO DEFICIENCY OF PROTEIN 4.2 CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 25266006 | Hereditary spherocytosis due to spectrin deficiency | 6011000124106~MAPPRIORITY~7 6011000124106~MAPRULE~IFA 10564005 | Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin | 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~IF MILD HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPRULE~IFA 47516005 | Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin | 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~D58.0 6011000124106~MAPADVICE~IF MILD HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 77413008 | Severe hereditary spherocytosis due to spectrin deficiency | 6011000124106~MAPPRIORITY~8 6011000124106~MAPRULE~IFA 33905008 | Hereditary spherocytosis due to deficiency of protein 4.2 | 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 24975009 | Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin | 6011000124106~MAPADVICE~IF SEVERE HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~R71.8 6011000124106~MAPRULE~IFA 69981004 | Hereditary spherocytosis due to beta spectrin defect | 6011000124106~MAPADVICE~ALWAYS D58.0 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO BETA SPECTRIN DEFECT CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF SEVERE HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF SEVERE HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 25266006 | Hereditary spherocytosis due to spectrin deficiency (disorder) | 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 69981004 | Hereditary spherocytosis due to beta spectrin defect (disorder) | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPPRIORITY~9 6011000124106~MAPCATEGORYID~447639009 447562003~MAPADVICE~ALWAYS D58.0 900000000000497000~MAPTARGET~D100. 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO DEFICIENCY OF PROTEIN 4.2 CHOOSE D58.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF SEVERE HEREDITARY SPHEROCYTOSIS DUE TO COMBINED DEFICIENCY OF SPECTRIN AND ANKYRIN CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~D58.0 6011000124106~MAPRULE~TRUE 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~IF MILD HEREDITARY SPHEROCYTOSIS DUE TO SPECTRIN DEFICIENCY CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF HEREDITARY SPHEROCYTOSIS DUE TO BETA SPECTRIN DEFECT CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 33905008 | Hereditary spherocytosis due to deficiency of protein 4.2 (disorder) | |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/38911009 http://purl.bioontology.org/ontology/SNOMEDCT/111575000 |