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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1269277004
http://purl.bioontology.org/ontology/SNOMEDCT/1269277004
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|---|---|
| Preferred Name | Leukocyte adhesion deficiency type III |
| Definitions |
A form of leukocyte adhesion deficiency characterized by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.
A form of leucocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in haematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.
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| Synonyms |
Leukocyte adhesion deficiency-1 variant
Leukocyte adhesion deficiency type 3 (disorder)
LAD-III - leucocyte adhesion deficiency type III
Leucocyte adhesion deficiency type III
LAD-1 (leukocyte adhesion deficiency-1) variant
Leucocyte adhesion deficiency-1 variant
LAD-III - leukocyte adhesion deficiency type III
Leukocyte adhesion deficiency type 3
LAD-1 (leucocyte adhesion deficiency-1) variant
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A form of leukocyte adhesion deficiency characterized by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive. A form of leucocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in haematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive. |
|---|---|
| prefLabel | Leukocyte adhesion deficiency type III
|
| altLabel |
Leukocyte adhesion deficiency-1 variant
Leukocyte adhesion deficiency type 3 (disorder)
LAD-III - leucocyte adhesion deficiency type III
Leucocyte adhesion deficiency type III
LAD-1 (leukocyte adhesion deficiency-1) variant
Leucocyte adhesion deficiency-1 variant
LAD-III - leukocyte adhesion deficiency type III
Leukocyte adhesion deficiency type 3
LAD-1 (leucocyte adhesion deficiency-1) variant
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| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20230430
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| cui | C2748536
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| Has pathological process | |
| CTV3ID | XVKgC
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
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| tui | T047
|
| Active | 1
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| notation | 1269277004
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| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~D72.0
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XVKgC
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~D84.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS D72.0
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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