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429449002: Congenital hypoplasia of fovea centralis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2690878011 Congenital hypoplasia of fovea centralis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693410016 Congenital hypoplasia of fovea centralis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2694076018 Congenital hypoplasia of fovea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309301000241112 Hypoplasie congénitale des fovea centralis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
512231000274118 Kongenitale Hypoplasie der Sehgrube de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
598811000274114 Kongenitale Hypoplasie der Fovea de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of fovea centralis (disorder) Is a Congenital anomaly of macula false Inferred relationship Some
Congenital hypoplasia of fovea centralis (disorder) Is a Congenital malformation false Inferred relationship Some
Congenital hypoplasia of fovea centralis (disorder) Occurrence Congenital false Inferred relationship Some
Congenital hypoplasia of fovea centralis (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Finding site Structure of fovea centralis false Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Finding site Structure of fovea centralis true Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital hypoplasia of fovea centralis (disorder) Associated morphology Hypoplasia false Inferred relationship Some 2
Congenital hypoplasia of fovea centralis (disorder) Finding site Structure of fovea centralis false Inferred relationship Some 2
Congenital hypoplasia of fovea centralis (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Is a Congenital hypoplasia of macula lutea (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Is a True Congenital hypoplasia of fovea centralis (disorder) Inferred relationship Some
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. Is a True Congenital hypoplasia of fovea centralis (disorder) Inferred relationship Some

This concept is not in any reference sets

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