raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:522574

Rare genetic macular 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
enRare genetic macular disorder
frMaladie génétique maculaire rare
deSeltene genetische Krankheit der Makula
esTrastorno macular genético raro
itPatologia genetica rara maculare
nlZeldzame genetische aandoening van maculaZeldzame genetische aandoening van gele vlek
ptDoença macular genética rara
plRzadka choroba plamki żółtej uwarunkowana genetycznie
csVzácná genetická makulární degenerace
ukРідкісний генетично обумовлений макулярний розлад
zh罕见遗传性黄斑疾病
trNadir genetik maküler bozukluk
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681401Evalidated

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 (2):

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