Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

primary congenital glaucoma

Synonyms

primary congenital glaucoma

primary congenital glaucoma (disease)

Definitions

Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.

ID

http://purl.obolibrary.org/obo/MONDO_0000365

database_cross_reference

NCIT:C150251

UMLS:C1533041

DOID:0050593

SCTID:415176004

HP:0008007

definition

Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C150251

http://purl.obolibrary.org/obo/DOID_0050593

http://linkedlifedata.com/resource/umls/id/C1533041

http://identifiers.org/snomedct/415176004

has_exact_synonym

primary congenital glaucoma

primary congenital glaucoma (disease)

IAO_0000589

primary congenital glaucoma (disease)

id

MONDO:0000365

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

label

primary congenital glaucoma

notation

MONDO:0000365

prefLabel

primary congenital glaucoma

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020366

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