ORPHA:522510

Rare genetic ophthalmic disorder with cranial nerve involvement

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 ophthalmic disorder with cranial nerve involvement
fr	Maladie génétique rare ophtalmique avec atteinte des nerfs crâniens
de	Seltene genetische Augenkrankheit mit Hirnnervenbeteiligung
es	Trastorno genético oftalmológico raro con afectación del nervio craneal
it	Malattia oftalmica genetica rara con coinvolgimento dei nervi cranici
nl	Zeldzame genetische oftalmische aandoening met betrokkenheid van hersenzenuwen
pt	Doença oftalmológica genética rara com envolvimento dos nervos cranianos
pl	Rzadka choroba oka uwarunkowana genetycznie obejmująca nerw wzrokowy
cs	Vzácná genetická oční porucha s postižením mozkového nervu
uk	Рідкісне генетично обумовлене офтальмологічне захворювання з ураженням черепно-мозкових нервів
zh	罕见遗传性眼病伴颅神经受累
tr	Kraniyal sinir tutulumu ile seyreden nadir genetik oftalmik bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681435	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:183616Genetic neuro-ophthalmological disease
rare genetic diseases

Children (7):

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/522510
This record as JSON: /data/d/522510.json