Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Congenital glaucoma
Synonyms

Buphthalmia

Buphthalmus

Buphthalmos

Primary congenital glaucoma

Definitions

A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.

ID

http://www.orpha.net/ORDO/Orphanet_98976

alternative_term

Buphthalmia

Buphthalmus

Buphthalmos

Primary congenital glaucoma

definition

A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98976

has_age_of_onset

Infancy

Neonatal

has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-10:Q15.0

OMIM:231300

OMIM:613086

OMIM:613085

ICD-11:9C61.40

OMIM:600975

UMLS:C0020302

OMIM:617272

label

Congenital glaucoma

notation

ORPHA:98976

part_of

http://www.orpha.net/ORDO/Orphanet_156005

prefixIRI

ORDO:Orphanet_98976

prefLabel

Congenital glaucoma

present_in

Italy AND has_birth_prevalence_average_value : 3.6 AND has_birth_prevalence_range : 1-9 / 100 000

Netherlands AND has_birth_prevalence_average_value : 5.6 AND has_birth_prevalence_range : 1-9 / 100 000

Malta AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

Ireland AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000

France AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000

Portugal AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000

Europe AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000

Spain AND has_birth_prevalence_average_value : 6.5 AND has_birth_prevalence_range : 1-9 / 100 000

Croatia AND has_birth_prevalence_average_value : 2.8 AND has_birth_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000

Austria AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000

Norway AND has_birth_prevalence_average_value : 0.8 AND has_birth_prevalence_range : 1-9 / 1 000 000

Switzerland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000

Germany AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000

Belgium AND has_birth_prevalence_average_value : 2.9 AND has_birth_prevalence_range : 1-9 / 100 000

Ukraine AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000

Poland AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_156005

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

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

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