ORPHA:522540

Anterior segment developmental anomaly 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	Anterior segment developmental anomaly of genetic origin
fr	Anomalie du développement du segment antérieur de l'oeil d'origine génétique
de	Genetisch bedingte Entwicklungsstörung des vorderen Augensegments
es	Anomalía del desarrollo del segmento anterior de origen genético
it	Anomalie dello sviluppo del segmqnto anteriore dell'occhio di origine genetica
nl	Ontwikkelingsanomalie van voorste oogsegment van genetische oorsprong
pt	Anomalia do desenvolvimento do segmento anterior de origem genética
pl	Wada rozwojowa przedniego odcinka oka uwarunkowana genetycznie
cs	Geneticky podmínaná vývojová anomálie předního segmentu oka
uk	Генетично обумовлена аномалія розвитку переднього сегмента
zh	遗传性前节发育异常
tr	Genetik kaynaklı anterior gelişim anomalisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681421	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: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/522540
This record as JSON: /data/d/522540.json