raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183515

Rare genetic medullar disease

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
enRare genetic medullar disease
frMaladie de la moelle épinière d'origine génétique
deMedulläre Krankheit, genetisch bedingte, seltene
esEnfermedad genética rara de la médula espinal
itMalattia genetica rara del midollo
nlZeldzame genetische medullaire ziekte
ptDoença medular genética rara
plRzadka choroba szpiku kostnego uwarunkowana genetycznie
csVzácná geneticky podmíněná onemocnění míchy
ukРідкісне генетичне медулярне захворювання
zh罕见遗传性延髓疾病
trNadir genetik medüller hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681838Evalidated

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