ORPHA:98408

Constitutional megaloblastic anemia due to folate 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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Constitutional megaloblastic anemia due to folate metabolism disorder
fr	Anémie mégaloblastique constitutionnelle par déficit en métabolisme du folate
de	Anämie, megaloblastische, Folat-abhängig
es	Anemia megaloblástica constitucional por trastornos en el metabolismo del folato
it	Anemia megaloblastica costituzionale da difetto del metabolismo dei folati
nl	Constitutionele megaloblastische anemie als gevolg van folaatstofwisselingsstoornis
pt	Anemia megaloblástica relacionada com folato
pl	Niedokrwistość megaloblastyczna konstytucjonalna z powodu zaburzenia metabolizmu kwasu foliowego
cs	Konstituční megaloblastická anémie způsobená poruchou metabolismu folátů
uk	Конституціональна мегалобластична анемія внаслідок порушення обміну фолатів
zh	叶酸代谢障碍所致原发性巨幼细胞贫血
tr	Folat metabolizması bozukluğuna bağlı yapısal megaloblastik anemi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681711	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:248296Constitutional deficiency anemia
rare genetic diseases; rare hematological diseases

Children (5):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98408
This record as JSON: /data/d/98408.json