corneal dystrophies, hereditary

Preferred Label : corneal dystrophies, hereditary;

MeSH definition : Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.;

MeSH synonym : hereditary corneal dystrophy; dystrophy, hereditary corneal; hereditary corneal dystrophies; corneal dystrophy, hereditary; Corneal Dystrophies; Corneal Dystrophy; Dystrophy, Corneal;

CISMeF synonym : dystrophies, hereditary corneal;

MeSH hyponym : granular dystrophy, corneal; macular dystrophy, corneal; groenouw's dystrophies; Dystrophies, Groenouw's; Groenouw Dystrophies; Groenouws Dystrophies; Corneal Granular Dystrophies; Corneal Granular Dystrophy; Dystrophies, Corneal Granular; Dystrophy, Corneal Granular; Granular Dystrophies, Corneal; Corneal Macular Dystrophies; Corneal Macular Dystrophy; Dystrophies, Corneal Macular; Dystrophy, Corneal Macular; Macular Dystrophies, Corneal;

Related MeSH term : stromal dystrophies, corneal; Corneal Stromal Dystrophies; Corneal Stromal Dystrophy; Dystrophies, Corneal Stromal; Dystrophy, Corneal Stromal; Stromal Dystrophy, Corneal;

Wikipedia link : https://en.wikipedia.org/wiki/Corneal dystrophy;

Details

Origin ID

D003317;

UMLS CUI

C0010035;

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)
- Corneal dystrophy, groenouw type I [OMIM Phenotype]
- Granular Corneal Dystrophy [NCIt concept]
- Granular corneal dystrophy [PASCAL descriptor]
- Granular corneal dystrophy [ICD-11 More detail]
- Granular corneal dystrophy [ICD-9 code]
- Granular corneal dystrophy [HPO term]
- Granular corneal dystrophy [MedDRA LLT]
- Granular corneal dystrophy (disorder) [SNOMED CT concept]
- Granular corneal dystrophy type I [ORDO Disease]
- Hereditary corneal dystrophies [ICD-9 code]
- Macular Corneal Dystrophy [NCIt concept]
- Macular corneal dystrophy [ICD-11 More detail]
- Macular corneal dystrophy [ICD-9 code]
- Macular corneal dystrophy [ORDO Disease]
- Macular corneal dystrophy [MedDRA LLT]
- Macular corneal dystrophy (disorder) [SNOMED CT concept]
- Macular dystrophy, corneal [OMIM Phenotype]
- Stromal corneal dystrophy [ICD-11 More detail]
- Stromal corneal dystrophy [ORDO Disease]
- Stromal corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy [DO Concept]
- granular corneal dystrophy [DO Concept]
- granular corneal dystrophy [SNOMED Notion]
- macular corneal dystrophy [DO Concept]
- macular corneal dystrophy [SNOMED Notion]
Currated CISMeF NLP mapping
- Corneal Dystrophy [NCIt concept]
- Corneal dystrophy [PASCAL descriptor]
- Corneal dystrophy [HPO term]
- Corneal dystrophy [MedDRA Preferred Term]
- Corneal dystrophy [ORDO Disease]
- Corneal dystrophy [HRDO Sign]
- Corneal dystrophy (disorder) [SNOMED CT concept]
- Hereditary Corneal Dystrophy [NCIt concept]
- Hereditary corneal dystrophies [ICD-10 Sub-category]
- Hereditary corneal dystrophies [ICD-11 Category]
- Hereditary corneal dystrophies [ICD-10 Sub-category (who)]
- Hereditary corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, nos [SNOMED Notion]
- hereditary cornea dystrophy [Disease (Nov.)]
- hereditary corneal dystrophy, nos [SNOMED Notion]
DO Cross reference
- corneal dystrophy [DO Concept]
- granular corneal dystrophy [DO Concept]
- macular corneal dystrophy [DO Concept]
HPO term
- Granular corneal dystrophy [HPO term]
Indexing information
- Best1 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Pellucid marginal degeneration [ORDO Disease]
- Posterior corneal dystrophy [ORDO Disease]
- Rare genetic eye disease [ORDO Disease]
- Ring dermoid of cornea [ORDO Disease]
- Stromal corneal dystrophy [ORDO Disease]
- Superficial corneal dystrophy [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
ORDO relation(s)
- Corneal dystrophy [ORDO Disease]
Record concept(s)
- corneal dystrophies, hereditary [MeSH concept]
- granular dystrophy, corneal [MeSH concept]
- groenouw's dystrophies [MeSH concept]
- macular dystrophy, corneal [MeSH concept]
- stromal dystrophies, corneal [MeSH concept]
Related MeSH Supplementary Concept(s)
- Lattice Corneal Dystrophy, Type II [MeSH Supplementary Concept]
- O'Donnell pappas syndrome [MeSH Supplementary Concept]
- bietti crystalline dystrophy [MeSH Supplementary Concept]
- brachymesomelia renal syndrome [MeSH Supplementary Concept]
- chorioretinal atrophy, progressive bifocal [MeSH Supplementary Concept]
- congenital corneal opacities, cornea guttata, and corectopia [MeSH Supplementary Concept]
- corneal cerebellar syndrome [MeSH Supplementary Concept]
- corneal degeneration, ribbonlike, with deafness [MeSH Supplementary Concept]
- corneal dystrophy and perceptive deafness [MeSH Supplementary Concept]
- corneal dystrophy avellino type [MeSH Supplementary Concept]
- corneal dystrophy of bowman layer, type 1 [MeSH Supplementary Concept]
- corneal dystrophy, Band-Shaped [MeSH Supplementary Concept]
- corneal dystrophy, Thiel-Behnke type [MeSH Supplementary Concept]
- corneal dystrophy, central type [MeSH Supplementary Concept]
- corneal dystrophy, congenital stromal [MeSH Supplementary Concept]
- corneal dystrophy, crystalline, of schnyder [MeSH Supplementary Concept]
- corneal dystrophy, endothelial, X-Linked [MeSH Supplementary Concept]
- corneal dystrophy, fleck [MeSH Supplementary Concept]
- corneal dystrophy, gelatinous drop-like [MeSH Supplementary Concept]
- corneal dystrophy, lattice type IIIA [MeSH Supplementary Concept]
- corneal dystrophy, lisch epithelial [MeSH Supplementary Concept]
- corneal dystrophy, posterior amorphous [MeSH Supplementary Concept]
- corneal dystrophy, posterior polymorphous, 1 [MeSH Supplementary Concept]
- corneal dystrophy, posterior polymorphous, 2 [MeSH Supplementary Concept]
- corneal dystrophy, posterior polymorphous, 3 [MeSH Supplementary Concept]
- corneal dystrophy, subepithelial mucinous [MeSH Supplementary Concept]
- corneal endothelial dystrophy 1 [MeSH Supplementary Concept]
- corneal endothelial dystrophy type 2 [MeSH Supplementary Concept]
- corneodermatoosseous syndrome [MeSH Supplementary Concept]
- dermochondrocorneal dystrophy of françois [MeSH Supplementary Concept]
- doyne honeycomb retinal dystrophy [MeSH Supplementary Concept]
- endothelial dystrophy, congenital hereditary, with nail hypoplasia [MeSH Supplementary Concept]
- epithelial recurrent erosion dystrophy [MeSH Supplementary Concept]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]
- ichthyosiform erythroderma, corneal involvement, deafness [MeSH Supplementary Concept]
- judge misch wright syndrome [MeSH Supplementary Concept]
- kuster majewski hammerstein syndrome [MeSH Supplementary Concept]
- lattice corneal dystrophy type 1 [MeSH Supplementary Concept]
- macular corneal dystrophy, type II [MeSH Supplementary Concept]
- macular dystrophy, corneal type 1 [MeSH Supplementary Concept]
- macular dystrophy, fenestrated sheen type [MeSH Supplementary Concept]
- macular dystrophy, retinal, 1, north carolina type [MeSH Supplementary Concept]
- macular dystrophy, retinal, 2 [MeSH Supplementary Concept]
- meretoja syndrome [MeSH Supplementary Concept]
- mousa al din al nassar syndrome [MeSH Supplementary Concept]
- oculodental syndrome rutherfurd syndrome [MeSH Supplementary Concept]
- pseudoinflammatory fundus dystrophy, finnish type [MeSH Supplementary Concept]
- sammartino de crecchio syndrome [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]
- sveinsson chorioretinal atrophy [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Autosomal dominant keratitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Corneal Dystrophy [NCIt concept]
- Hereditary corneal dystrophies [ICD-9 code]
- Hereditary corneal dystrophies [ICD-10 Sub-category (who)]
- Hereditary corneal dystrophies [ICD-10 Sub-category]
- Hereditary corneal dystrophies [ICD-11 Category]
- Hereditary corneal dystrophy (disorder) [SNOMED CT concept]
- Hereditary corneal dystrophy, unspecified [MedDRA LLT]
- Hereditary corneal dystrophy, unspecified [ICD-9 code]
- hereditary cornea dystrophy [Disease (Nov.)]
- hereditary corneal dystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- corneal granular dystrophy type I [Disease (Nov.)]
- granular corneal dystrophy [Disease (Nov.)]
- macular corneal dystrophy [Disease (Nov.)]

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