loading...| Preferred Name | Microcephaly, normal intelligence and immunodeficiency | |
| Synonyms |
Nijmegen breakage syndrome Seemanova syndrome II Microcephaly, normal intelligence and immunodeficiency (disorder) NBS - Nijmegen breakage syndrome |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/234638009 |
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| Active |
1 |
|
| altLabel |
Nijmegen breakage syndrome Seemanova syndrome II Microcephaly, normal intelligence and immunodeficiency (disorder) NBS - Nijmegen breakage syndrome |
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| Associated with | ||
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
X20Ie |
|
| cui |
C0398791 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
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| Has finding site | ||
| Has pathological process | ||
| notation |
234638009 |
|
| prefLabel |
Microcephaly, normal intelligence and immunodeficiency |
|
| Subset member |
6011000124106~MAPADVICE~ALWAYS D84.9 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~D84.9 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 447562003~MAPADVICE~ALWAYS Q02 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~ALWAYS Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~X20Ie 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPTARGET~D89.8 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS D89.8 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q02 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~Q02 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/699346009 http://purl.bioontology.org/ontology/SNOMEDCT/234632005 |