ORPHA:522542

Rare genetic disorder with conjunctival involvement as a major feature

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 with conjunctival involvement as a major feature
fr	Maladie génétique rare avec atteinte conjonctivale comme manifestation majeure
de	Seltene genetische Krankheit mit Beteiligung der Konjunktiva als Hauptmerkmal
es	Trastorno genético raro con afectación conjuntival como característica principal
it	Malattia genetica rara con coinvolgimento congiuntivale quale segno maggiore
nl	Zeldzame genetische aandoening met betrokkenheid van conjunctiva als hoofdkenmerk
pt	Doença genética rara com envolvimento da conjuntiva como característica principal
pl	Rzadka choroba uwarunkowana genetycznie, w której obrazie dominują objawy ze strony spojówek
cs	Vzácná genetická porucha s postižením spojivek jako hlavním příznakem
uk	Рідкісне генетично обумовлене захворювання з ураженням конюнктиви як основною ознакою
zh	以结膜受累为主要特征的罕见遗传性疾病
tr	Esas klinik özelliği konjonktiva tutulumu olan nadir genetik bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681417	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:522538Rare genetic disorder of the anterior segment of the eye
rare genetic diseases

Children (2):

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/522542
This record as JSON: /data/d/522542.json