vitelliform macular dystrophy

Preferred Label : vitelliform macular dystrophy;

MeSH definition : Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.;

MeSH synonym : dystrophies, vitelliform macular; dystrophy, vitelliform macular; macular dystrophies, vitelliform; macular dystrophy, vitelliform; vitelliform macular dystrophies; best macular dystrophy; dystrophy, best macular; macular dystrophy, best; best's disease; disease, best's; best disease; disease, best; best vitelliform macular dystrophy; macular degeneration, polymorphic vitelline; vitelliform dystrophy;

CISMeF synonym : bests disease;

MeSH hyponym : Juvenile-Onset vitelliform macular dystrophy; Adult-Onset vitelliform macular dystrophy; Adult Onset Vitelliform Macular Dystrophy; Vitelliform Macular Dystrophy, Adult-Onset; Vitelliform Macular Dystrophy, Adult Onset; Macular Dystrophy, Vitelliform, Adult-Onset; Foveomacular Dystrophy, Adult-Onset; Adult-Onset Foveomacular Dystrophies; Adult-Onset Foveomacular Dystrophy; Dystrophies, Adult-Onset Foveomacular; Dystrophy, Adult-Onset Foveomacular; Foveomacular Dystrophies, Adult-Onset; Foveomacular Dystrophy, Adult Onset; Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization; Juvenile Onset Vitelliform Macular Dystrophy; Vitelliform Macular Dystrophy, Early-Onset; Vitelliform Macular Dystrophy, Early Onset; Vitelliform Macular Dystrophy, Juvenile-Onset; Vitelliform Macular Dystrophy, Juvenile Onset; Vitelliform Macular Dystrophy Type 2;

Wikipedia link : https://en.wikipedia.org/wiki/Macular dystrophy, vitelliform;

Details

Origin ID

D057826;

UMLS CUI

C0339510;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Adult vitelliform macula dystrophy [ICD-11 More detail]
- Adult vitelliform macular dystrophy (disorder) [SNOMED CT concept]
- Adult-onset vitelliform macular dystrophy [MedDRA LLT]
- Argentinian hemorrhagic fever (disorder) [SNOMED CT concept]
- Basedow's disease [MedDRA Preferred Term]
- Bauxite fibrosis of lung (disorder) [SNOMED CT concept]
- Best disease [ICD-11 More detail]
- Brass-founders' fever (disorder) [SNOMED CT concept]
- Chagas' disease [MedDRA LLT]
- Coats' disease [MedDRA LLT]
- Coats' disease (disorder) [SNOMED CT concept]
- Corbus' disease [MedDRA LLT]
- Cotunnius' disease [MedDRA LLT]
- Disease [PASCAL descriptor]
- Disease (disorder) [SNOMED CT concept]
- Disease ID [EDAM data]
- Disease or Disorder [NCIt concept]
- Disease related state (finding) [SNOMED CT concept]
- Disorder of face (disorder) [SNOMED CT concept]
- Eales' disease [MedDRA Preferred Term]
- Eales' disease (disorder) [SNOMED CT concept]
- Erythema infectiosum [MedDRA Preferred Term]
- Exudative retinopathy [MedDRA Preferred Term]
- Flax-dressers' disease (disorder) [SNOMED CT concept]
- Forbes' disease [MedDRA LLT]
- GRAVES' DISEASE [WHO-ART Included Term]
- General health [LOINC component]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- Graves Disease [NCIt concept]
- Graves' disease [MedDRA LLT]
- Graves' disease (disorder) [SNOMED CT concept]
- Gross' disease (disorder) [SNOMED CT concept]
- Hereditary macular dystrophy (disorder) [SNOMED CT concept]
- Infection caused by Trypanosoma cruzi (disorder) [SNOMED CT concept]
- Inhalational anthrax (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of head of humerus (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of lower ulna (disorder) [SNOMED CT concept]
- Kuess' disease (disorder) [SNOMED CT concept]
- Legionnaires disease [ORDO Disease]
- Lichen nitidus (disorder) [SNOMED CT concept]
- Macular dystrophy [PASCAL descriptor]
- Macular dystrophy [HPO term]
- Macular dystrophy [MedDRA LLT]
- Macular dystrophy, vitelliform [OMIM phenotypic series]
- Malignant atrophic papulosis (disorder) [SNOMED CT concept]
- Marginal periodontitis (disorder) [SNOMED CT concept]
- Panhypopituitarism (disorder) [SNOMED CT concept]
- Partial lipodystrophy [MedDRA Preferred Term]
- Perthes' disease [MedDRA LLT]
- Primary progressive cerebellar degeneration (disorder) [SNOMED CT concept]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- Simons' disease [MedDRA LLT]
- Still disease [PASCAL descriptor]
- Stokvis' disease (disorder) [SNOMED CT concept]
- Subcorneal pustular dermatosis (disorder) [SNOMED CT concept]
- Tularemia (disorder) [SNOMED CT concept]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- alpers' disease [MedDRA Preferred Term]
- bestrophin 1 [ORDO Gene]
- bestrophin 1 [HGNC gene]
- disease [ORDO Disease]
- disease [OBI concept]
- disease, nos [SNOMED Notion]
- eales' disease [SNOMED Notion]
- fifth disease [MedlinePlus Topic]
- gross' disease [SNOMED Notion]
- juvenile arthritis [MedlinePlus Topic]
- kuess' disease [SNOMED Notion]
- legionnaires' disease [MedlinePlus Topic]
- no disease [ICPC-2 Rubric]
- stokvis' disease [SNOMED Notion]
- thyroid diseases [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Best disease [Disease (Nov.)]
- Best vitelliform macular dystrophy [ORDO Disease]
- Best vitelliform macular dystrophy (disorder) [SNOMED CT concept]
- Best's disease [MedDRA LLT]
- Vitelliform Macular Dystrophy [NCIt concept]
- Vitelliform dystrophy (disorder) [SNOMED CT concept]
- Vitelliform macular dystrophy [MedDRA LLT]
- Vitelliform-like macular lesions [HPO term]
- vitelliform dystrophy [SNOMED Notion]
- vitelliform macular dystrophy [DO Concept]
DO Cross reference
- vitelliform macular dystrophy [DO Concept]
HPO term
- Vitelliform-like macular lesions [HPO term]
Record concept(s)
- Adult-Onset vitelliform macular dystrophy [MeSH concept]
- Juvenile-Onset vitelliform macular dystrophy [MeSH concept]
- vitelliform macular dystrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- best vitelliform macular dystrophy, multifocal [MeSH Supplementary Concept]
- macular dystrophy, atypical vitelliform [MeSH Supplementary Concept]
See also
- macular degeneration [MeSH Descriptor]
See also inter- (CISMeF)
- Adult-onset foveomacular vitelliform dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Best vitelliform macular dystrophy (disorder) [SNOMED CT concept]
- Best's disease [MedDRA LLT]
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
- Vitelliform Macular Dystrophy [NCIt concept]
- Vitelliform dystrophy (disorder) [SNOMED CT concept]
- Vitelliform macular dystrophy [MedDRA LLT]
- vitelliform dystrophy [SNOMED Notion]
- vitelliform macular dystrophy [DO Concept]
Validated automatic mappings to BTNT
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
- Macular dystrophy, vitelliform, 3 [OMIM Phenotype]

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