raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:248361

Rare thrombotic disorder due to a constitutional coagulation factors defect

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRare thrombotic disorder due to a constitutional coagulation factors defect
frMaladie thrombotique rare par déficit constitutionnel en facteurs de coagulation
deSeltene thrombotische Störung durch konstitutionellen Gerinnungsfaktoren-Defekt
esEnfermedad trombótica rara por un defecto constitucional de los factores de coagulación
itDisturbo trombotico raro da difetto costituzionale dei fattori di coagulazione
nlZeldzame trombotische stoornis als gevolg van een constitutionele coagulatiefactordefect
ptDoença trombótica rara por defeito constitucional dos fatores de coagulação
plRzadkie zaburzenie krzepnięcia z powodu konstytucyjnego defektu czynników krzepnięcia
csVzácné trombotické poruchy způsobené defektem konstitučních koagulačních faktorů
ukРідкісний тромботичний розлад, зумовлений конституціональним дефектом факторів згортання крові
zh先天性凝血因子缺陷导致的罕见血栓性疾病
trYapısal pıhtılaşma faktörleri defektlerine bağlı nadir trombotik bozukluk
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16633Evalidated
UMLSC5680691Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card