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204113001: Congenital glaucoma (disorder)

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
916321000195119 glaucoma congenito it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896931000172119 buphthalmie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962741000172116 glaucome congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
393581000274114 Angeborenes Glaukom de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
531471000274117 Kongenitaler Grüner Star de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
633341000274110 Kongenitales Glaukom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

12 descendants. Search Descendants:

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
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by 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. Is a True Congenital glaucoma Inferred relationship Some

This concept is not in any reference sets

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