raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98396

Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder

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
enConstitutional megaloblastic anemia due to vitamin B12 metabolism disorder
frAnémie mégaloblastique constitutionnelle due à une anomalie de métabolisme de la vitamine B12
deAnämie, megaloblastische, Vitamin B12-abhängig
esAnemia megaloblástica constitucional por trastorno del metabolismo de la vitamina B12
itAnemia megaloblastica costituzionale da disturbi del metabolismo della vitamina B12
nlConstitutionele megaloblastische anemie als gevolg van vitamine B12-stofwisselingsstoornis
ptAnemia megaloblástica, relacionada com a vitamina B12
plNiedokrwistość megaloblastyczna konstytucjonalna z powodu zaburzenia metabolizmu witaminy B12
csKonstituční megaloblastická anémie způsobená poruchou metabolismu vitaminu B12
ukКонституціональна мегалобластна анемія внаслідок порушення обміну вітаміну В12
zh维生素B12代谢紊乱所致原发性巨幼细胞贫血
trB12 vitamini metabolizması bozukluğuna bağlı yapısal megaloblastik anemi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681709Evalidated

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 (5):

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