Schnyder corneal dystrophy

Preferred Label : Schnyder corneal dystrophy;

Symbol : SCCD;

CISMeF acronym : SCD; SCCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal dystrophy, schnyder; Schnyder crystalline corneal dystrophy; Corneal dystrophy, crystalline, of schnyder;

Description : Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).;

Inheritance : Autosomal dominant;

Prefixed ID : #121800;

Details

Origin ID

121800;

UMLS CUI

C0271287;

Automatic exact mappings (from CISMeF team)
- Acyl-CoA Desaturase [NCIt concept]
- Doctor of Science [NCIt concept]
- SCD Gene [NCIt concept]
- Schnyder crystalline corneal dystrophy [ICD-11 More detail]
- Secondary ciliary dyskinesia [ORDO Disease]
- Sickle cell disease without crisis [ICD-11 Subcategory]
- Sudden Cardiac Death [NCIt concept]
- solute carrier family 22 member 5 [ORDO Gene]
- symbol withdrawn SCCD [HGNC gene]
Currated CISMeF NLP mapping
- Crystalline corneal dystrophy (disorder) [SNOMED CT concept]
- Schnyder corneal dystrophy [PASCAL descriptor]
- Schnyder corneal dystrophy [DO Concept]
- Schnyder corneal dystrophy [ORDO Disease]
- corneal dystrophy, crystalline, of schnyder [MeSH concept]
- corneal dystrophy, crystalline, of schnyder [MeSH Supplementary Concept]
DO Cross reference
- Schnyder corneal dystrophy [DO Concept]
Genes related to phenotype
- Ubia prenyltransferase domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Crystalline corneal dystrophy [HPO term]
ORDO concept(s)
- Schnyder corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Crystalline corneal dystrophy [HPO term]
- Crystalline corneal dystrophy (disorder) [SNOMED CT concept]
- Schnyder corneal dystrophy [ORDO Disease]
- Schnyder corneal dystrophy [DO Concept]
- Schnyder corneal dystrophy [PASCAL descriptor]
- Schnyder crystalline cornea dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, crystalline, of schnyder [MeSH Supplementary Concept]
- corneal dystrophy, crystalline, of schnyder [MeSH concept]
- crystalline corneal dystrophy [SNOMED Notion]
- crystalline corneal dystrophy [Disease (Nov.)]
Validated automatic mappings to NTBT
- crystalline corneal dystrophy [Disease (Nov.)]

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