Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Rare developmental defect during embryogenesis

Synonyms

Malformation syndrome

ID

http://www.orpha.net/ORDO/Orphanet_93890

alternative_term

Malformation syndrome

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890

hasDbXref

UMLS:C5680284

label

Rare developmental defect during embryogenesis

notation

ORPHA:93890

Category

Head of classification

prefixIRI

ORDO:Orphanet_93890

prefLabel

Rare developmental defect during embryogenesis

present_in

France AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000

France AND has_birth_prevalence_average_value : 2.42 AND has_birth_prevalence_range : 1-9 / 100 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

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http://www.limics.org/hrdo/rdfns#pat_id_12469 HRDO LOOM