Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. [ Orphanet : 329 ]
This is just here as a test because I lose it
Term information
database
cross reference
- UMLS:C0015523 (Orphanet:329)
- Orphanet:329 (OMIM:612416)
- SCTID:49762007 (MONDO:equivalentTo)
- OMIM:612416 (Orphanet:329/e)
- NCIT:C84705 (MONDO:equivalentTo)
- ICD9:286.2 (MONDO:i2s)
- DOID:2229 (MONDO:equivalentTo)
- GARD:0009670 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_disease
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml
definition
- Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
exactMatch
- http://purl.obolibrary.org/obo/DOID_2229
- http://www.orpha.net/ORDO/Orphanet_329
- https://omim.org/entry/612416
- http://identifiers.org/snomedct/49762007
- http://linkedlifedata.com/resource/umls/id/C0015523
- http://purl.obolibrary.org/obo/NCIT_C84705
has exact synonym
- factor XI deficiency, autosomal recessive
- Rosenthal's disease
- plasma thromboplastin antecedent deficiency
- Rosenthal factor deficiency
- hereditary factor XI deficiency disease
- Rosenthal syndrome
- hereditary Factor XI deficiency
- hereditary factor XI deficiency
- hemophilia C
- PTA deficiency
- congenital factor XI deficiency
- factor XI deficiency, autosomal dominant
has related synonym
- factor XI deficiency
- F11 deficiency
- factor 11 deficiency
id
- MONDO:0012897
seeAlso
- https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency
term tracker item
- https://github.com/monarch-initiative/mondo/issues/5537
- https://github.com/monarch-initiative/mondo/issues/4521
- https://github.com/monarch-initiative/mondo/issues/4069