loading...| Preferred Name |
Hereditary elliptocytosis |
|
| Synonyms |
Hereditary elliptocytosis (disorder) HE - Hereditary elliptocytosis |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/191169008 |
|
| Active |
1 |
|
| altLabel |
Hereditary elliptocytosis (disorder) Congenital elliptocytosis Hereditary ovalocytosis HE - Hereditary elliptocytosis |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
D101. |
|
| cui |
C0013902 |
|
| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20200131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets |
http://purl.bioontology.org/ontology/SNOMEDCT/441689006 |
|
| notation |
191169008 |
|
| Occurs in | ||
| prefLabel |
Hereditary elliptocytosis |
|
| Subset member |
6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~D58.1 6011000124106~MAPRULE~IFA 5994005 | Hereditary elliptocytosis due to deficiency of protein 4.1 (disorder) | 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 75443009 | Hereditary elliptocytosis due to abnormal protein 4.1 (disorder) | 6011000124106~MAPRULE~IFA 234410008 | Hereditary elliptocytosis with transient poikilocytosis (disorder) | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO BETA SPECTRIN DEFECT IN SELF-ASSOCIATION CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | 6011000124106~MAPRULE~IFA 66262001 | Hereditary elliptocytosis due to beta spectrin-ankyrin interaction | 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 73073009 | Hereditary elliptocytosis due to beta spectrin defect in self-association | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS WITH TRANSIENT POIKILOCYTOSIS CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~ALWAYS D58.1 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 5994005 | Hereditary elliptocytosis due to deficiency of protein 4.1 | 447562003~MAPADVICE~ALWAYS D58.1 6011000124106~MAPPRIORITY~8 900000000000497000~MAPTARGET~D101. 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO ABNORMAL PROTEIN 4.1 CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPRULE~IFA 8857001 | Hereditary elliptocytosis due to alpha spectrin defect | 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO DEFICIENCY OF PROTEIN 4.1 CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~R71.8 6011000124106~MAPRULE~IFA 15121005 | Hereditary elliptocytosis due to glycophorin C deficiency | 447562003~MAPTARGET~D58.1 6011000124106~MAPTARGET~Q87.81 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO ALPHA SPECTRIN DEFECT CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPRULE~IFA 8857001 | Hereditary elliptocytosis due to alpha spectrin defect (disorder) | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO BETA SPECTRIN-ANKYRIN INTERACTION CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~9 6011000124106~MAPRULE~IFA 73073009 | Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder) | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE Q87.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS WITH TRANSIENT POIKILOCYTOSIS CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO ABNORMAL PROTEIN 4.1 CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 66262001 | Hereditary elliptocytosis due to beta spectrin-ankyrin interaction (disorder) | 6011000124106~MAPRULE~IFA 75443009 | Hereditary elliptocytosis due to abnormal protein 4.1 | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO BETA SPECTRIN DEFECT IN SELF-ASSOCIATION CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO GLYCOPHORIN C DEFICIENCY CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO BETA SPECTRIN-ANKYRIN INTERACTION CHOOSE R71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE Q18.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 234410008 | Hereditary elliptocytosis with transient poikilocytosis | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO ALPHA SPECTRIN DEFECT CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO DEFICIENCY OF PROTEIN 4.1 CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 15121005 | Hereditary elliptocytosis due to glycophorin C deficiency (disorder) | 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~Q18.8 6011000124106~MAPRULE~IFA 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | 6011000124106~MAPADVICE~IF HEREDITARY ELLIPTOCYTOSIS DUE TO GLYCOPHORIN C DEFICIENCY CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/42601008 http://purl.bioontology.org/ontology/SNOMEDCT/38911009 |