ORPHA:522578

Rare genetic disorder involving multiple structures of the eye

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	Rare genetic disorder involving multiple structures of the eye
fr	Maladie génétique rare avec atteinte de multiples structures de l'oeil
de	Seltene genetische Krankheit mit Beteiligung multipler Strukturen des Auges
es	Trastorno genético raro con afectación de múltiples estructuras del ojo
it	Malattia genetica rara coinvolgente strutture multiple dell'occhio
nl	Zeldzame genetische aandoening met betrokkenheid van multipele oogstructuren
pt	Doença genética rara com envolvimento de múltiplas estruturas do olho
pl	Rzadka choroba obejmująca liczne struktury oka uwarunkowana genetycznie
cs	Vzácná genetická porucha postihující více očních struktur
uk	Рідкісне генетично обумовлене захворювання, що охоплює кілька структур ока
zh	罕见涉及眼睛多个结构的遗传性疾病
tr	Gözün birden çok yapısını içeren nadir genetik bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681403	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:97966Rare ophthalmic disorder

Parents in the classifications (1):

ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases

Children (4):

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/522578
This record as JSON: /data/d/522578.json