raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:294944

Congenital deformities of limbs

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
enCongenital deformities of limbs
frDéformations congénitales des membres
deFehlbildungen der Extremitäten, kongenitale
esMalformaciones congénitas de las extremidades
itDeformità congenite degli arti
nlCongenitale deformiteiten van ledematenCongenitale misvormingen van ledematen
ptDeformidades congénitas dos membros
plWrodzone deformacje kończyn
csVrozené deformity končetin
ukВроджені деформації кінцівок
zh先天性四肢畸形
trEkstremitelerin doğumsal deformiteleri
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017427Evalidated
MONDO17427Evalidated
MeSHD017880Evalidated
UMLSC0206762Evalidated
MedDRA10024500Evalidated

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 (1):

Children (2):

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