raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:231386

Syndromic beta-thalassemia

Type
Category
Group
Group of disorders
Status
active

Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSyndromic beta-thalassemia
frBêta-thalassémie syndromiqueThalassémie bêta avec maladie associée
deSyndromale Beta-Thalassämie
esBeta-talasemia sindrómica
itBeta-talassemia sindromica
nlSyndromale bèta-thalassemie
ptBeta-talassemia sindrómica
plSyndromiczna beta-talasemia
csBeta-talasémie s jinými manifestacemi
ukБета-таласемія з іншими проявами
zhβ-地中海贫血伴其他症状
trDiğer belirtiler ile seyreden beta-talasemi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16492Evalidated
UMLSC5680915Evalidated

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 (1):

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