sveinsson chorioretinal atrophy

Preferred Label : sveinsson chorioretinal atrophy;

MeSH note : mutation in TEAD1;

MeSH synonym : peripapillary chorioretinal degeneration, icelandic type; helicoidal peripapillary chorioretinal degeneration; atrophia areata;

Details

Origin ID

C566236;

UMLS CUI

C1862382;

CISMeF manual mappings
- Helicoid peripapillary chorioretinal degeneration [ORDO Disease]
Currated CISMeF NLP mapping
- Helicoid peripapillary chorioretinal degeneration [ICD-11 More detail]
- Helicoid peripapillary chorioretinal degeneration (disorder) [SNOMED CT concept]
- Sveinsson chorioretinal atrophy [DO Concept]
- Sveinsson chorioretinal atrophy [OMIM Phenotype]
DO Cross reference
- Sveinsson chorioretinal atrophy [DO Concept]
MeSH term(s) associated for indexing
- corneal dystrophies, hereditary [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
Record concept(s)
- sveinsson chorioretinal atrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Helicoid peripapillary chorioretinal degeneration [ORDO Disease]
- Helicoid peripapillary chorioretinal degeneration [ICD-11 More detail]
- Helicoid peripapillary chorioretinal degeneration (disorder) [SNOMED CT concept]
- Sveinsson chorioretinal atrophy [OMIM Phenotype]
- Sveinsson chorioretinal atrophy [DO Concept]

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