Preferred Label : retinal dystrophies;
MeSH definition : A group of disorders involving predominantly the posterior portion of the ocular fundus,
due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM;
BRUCH MEMBRANE; CHOROID; or a combination of these tissues.;
MeSH synonym : dystrophies, retinal; dystrophy, retinal; retinal dystrophy;
MeSH annotation : CONE-ROD DYSTROPHY see RETINITIS PIGMENTOSA is also available;
Origin ID : D058499;
UMLS CUI : C0854723;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
HPO term
ORDO relation(s)
Record concept(s)
Related MeSH Supplementary Concept(s)
Semantic type(s)
UMLS correspondences (same concept)
A group of disorders involving predominantly the posterior portion of the ocular fundus,
due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM;
BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85128
false
true
false
France
scientific and technical information
bothnia retinal dystrophy
bothnia retinal dystrophy
retinal dystrophies
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=75327
2014
false
true
false
France
scientific and technical information
Macular dystrophy, retinal, 1, North Carolina type
retinal dystrophies
macular dystrophy, retinal, 1, north carolina type
macular degeneration
retinal pigment epithelium
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=99002
2011
France
scientific and technical information
retinal pigment epithelium
reticular dystrophy of retinal pigment epithelium
reticular dystrophy of retinal pigment epithelium
retinal dystrophies
---
https://anpgm.fr/media/documents/ANPGM_041_Dystrophie_retiniennes_gne_RDS.doc
2010
France
guideline
Embarrassment
retinal dystrophies
genes
dystrophy, nos
mutation
Dystrophy
gene, nos
retina, nos
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1180
2004
false
true
false
France
child
scientific and technical information
hypogonadism
retinal dystrophies
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
spinocerebellar ataxias
---