Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Congenital hydrocephalus

Synonyms
Definitions

A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.

ID

http://www.orpha.net/ORDO/Orphanet_2185

definition

A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185

has_age_of_onset

Antenatal

has_inheritance

Not applicable

hasDbXref

ICD-10:Q03.9

UMLS:C0020256

ICD-11:LA04

ICD-10:Q03.8

OMIM:236600

MedDRA:10010506

ICD-10:Q03.1

ICD-10:Q03.0

OMIM:615219

label

Congenital hydrocephalus

notation

ORPHA:2185

part_of

http://www.orpha.net/ORDO/Orphanet_269550

http://www.orpha.net/ORDO/Orphanet_108989

prefixIRI

ORDO:Orphanet_2185

prefLabel

Congenital hydrocephalus

present_in

United States AND has_birth_prevalence_average_value : 59.0 AND has_birth_prevalence_range : 6-9 / 10 000

Europe AND has_birth_prevalence_average_value : 46.5 AND has_birth_prevalence_range : 1-5 / 10 000

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_269550

http://www.orpha.net/ORDO/Orphanet_108989

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_2185 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016349 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016349 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016349 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016349 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0016349 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0016349 KTAO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91300 SNMI LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q03 ICD10CM LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Hydrocephalus PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98876 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6344 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10/Q03 ICD10 LOOM
http://purl.bioontology.org/ontology/RCTV2/P23..00 RCTV2 LOOM
http://www.gamuts.net/entity#congenital_hydrocephalus GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C98876 BERO LOOM
http://purl.obolibrary.org/obo/GSSO_006767 GSSO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/47032000 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010506 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Hydrocephalus CSEO LOOM
http://purl.bioontology.org/ontology/ICD9CM/742.3 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/742.3 NLMVS LOOM
http://doe-generated-ontology.com/OntoAD#C0020256 ONTOAD LOOM
http://purl.bioontology.org/ontology/RCD/P23.. RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_507 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020256 OCHV LOOM
http://www.gamuts.net/entity#congenital_hydrocephalus GAMUTS REST