204113001: Congenital glaucoma (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital glaucoma
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma
\Disease\Developmental disorder\Congenital glaucoma

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

312991013 Congenital glaucoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2752063017 Congenital glaucoma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital glaucoma	Is a	Glaucoma	true	Inferred relationship	Some
Congenital glaucoma	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital glaucoma	Is a	Congenital disease	true	Inferred relationship	Some
Congenital glaucoma	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital glaucoma	Is a	Developmental disorder	true	Inferred relationship	Some
Congenital glaucoma	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital glaucoma	Finding site	Eye structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary congenital glaucoma (disorder)	Is a	True	Congenital glaucoma	Inferred relationship	Some
Dyssegmental dysplasia with glaucoma syndrome	Is a	False	Congenital glaucoma	Inferred relationship	Some
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.	Is a	True	Congenital glaucoma	Inferred relationship	Some
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Is a	True	Congenital glaucoma	Inferred relationship	Some
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Is a	True	Congenital glaucoma	Inferred relationship	Some
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	Is a	True	Congenital glaucoma	Inferred relationship	Some
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	Is a	False	Congenital glaucoma	Inferred relationship	Some
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.	Is a	True	Congenital glaucoma	Inferred relationship	Some
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.	Is a	True	Congenital glaucoma	Inferred relationship	Some
Congenital glaucoma of right eye (disorder)	Is a	True	Congenital glaucoma	Inferred relationship	Some
Congenital glaucoma of left eye	Is a	True	Congenital glaucoma	Inferred relationship	Some
A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24.	Is a	True	Congenital glaucoma	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
312991013	Congenital glaucoma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2752063017	Congenital glaucoma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core