raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98415

Vitamin B12- and folate-independent constitutional megaloblastic anemia

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
enVitamin B12- and folate-independent constitutional megaloblastic anemia
frAnémie mégaloblastique constitutionnelle indépendante de la vitamine B12 ou du folate
deAnämie, megaloblastische, Vitamin B12- und Folat-unabhängig
esAnemia megaloblástica constitucional independiente de la vitamina B12 o del folato
itAnemia megaloblastica costituzionale vitamina B12- e folati-indipendente
nlVitamine B12- en folaatonafhankelijke constitutionele megaloblastische anemie
ptAnemia megaloblástica independente de vitamina B12 e de folato
plNiedokrwistość megaloblastyczna konstytucjonalna zależna od witaminy B12 i kwasu foliowego
csKonstituční megaloblastická anémie nezávislá na vitaminu B12 a folátech
ukВітамін В12- та фолат-незалежна конституціональна мегалобластна анемія
zh维他命B12和叶酸代谢紊乱原发性巨幼细胞贫血
trB12 vitamini ve folattan bağımsız yapısal megaloblastik anemi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-113A03.YNTBTindexvalidated
MONDO0020112Evalidated
UMLSC5681710Evalidated

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 (3):

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