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723828008: bestrophinopathie autosomique récessive (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3426298018 Retinopathy Burgess Black type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3426299014 Autosomal recessive bestrophinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426300018 Autosomal recessive bestrophinopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
760011000241118 bestrophinopathie autosomique récessive (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
932371000172117 bestrophinopathie autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
956541000172116 rétinopathie type Burgess-Black fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3426297011 A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive bestrophinopathy est un(e) (attribut) Hereditary retinal dystrophy true Inferred relationship Some
Autosomal recessive bestrophinopathy est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive bestrophinopathy morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive bestrophinopathy localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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