FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

698847000: Hereditary retinal dystrophy primarily involving retinal pigment epithelium (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2981441013 Hereditary retinal dystrophy primarily involving retinal pigment epithelium en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2981448019 Hereditary retinal dystrophy primarily involving retinal pigment epithelium (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2981489016 Inherited retinal dystrophy primarily involving retinal pigment epithelium en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Is a Hereditary retinal dystrophy true Inferred relationship Some
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Finding site Retinal structure false Inferred relationship Some
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Associated morphology Dystrophy true Inferred relationship Some 1
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Finding site Retinal structure false Inferred relationship Some 1
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Is a Retinal pigment epithelial dystrophy true Inferred relationship Some
Hereditary retinal dystrophy primarily involving retinal pigment epithelium Finding site Structure of retinal pigment epithelium true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness. Is a True Hereditary retinal dystrophy primarily involving retinal pigment epithelium Inferred relationship Some
Pattern dystrophy of macula Is a True Hereditary retinal dystrophy primarily involving retinal pigment epithelium Inferred relationship Some
A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. Is a True Hereditary retinal dystrophy primarily involving retinal pigment epithelium Inferred relationship Some
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. Is a True Hereditary retinal dystrophy primarily involving retinal pigment epithelium Inferred relationship Some

This concept is not in any reference sets

Back to Start