ORPHA:522536

Structural developmental eye defect of genetic origin

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	Structural developmental eye defect of genetic origin
fr	Anomalie du développement structurel de l'oeil d'origine génétique
de	Genetisch bedingte strukturelle Augenentwicklungsstörung
es	Defecto del desarrollo de la estructura del ojo de origen genético
it	Difetto strutturale dello sviluppo dell'occhio di origine genetica
nl	Structureel ontwikkelingsdefect van oog van genetische oorsprong
pt	Defeito do desenvolvimento estrutural do olho de origem genética
pl	Strukturalna wada rozwojowa oka uwarunkowana genetycznie
cs	Geneticky podmíněná strukturní vývojová oční vada
uk	Генетично обумовлена структурна вада розвитку очей
zh	遗传性结构性眼球发育缺陷
tr	Genetik kaynaklı yapısal gelişimsel göz defekti

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681423	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases
ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases

Children (5):

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/522536
This record as JSON: /data/d/522536.json