Spinocerebellar degeneration and corneal dystrophy

Preferred Label : Spinocerebellar degeneration and corneal dystrophy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Corneal-cerebellar syndrome; Corneal dystrophy with spinocerebellar degeneration;

Inheritance : Autosomal recessive;

Prefixed ID : 271310;

Details

Origin ID

271310;

UMLS CUI

C1849087;

Automatic exact mappings (from CISMeF team)
- Corneal-cerebellar syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Corneal cerebellar syndrome [MeSH concept]
- Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) [SNOMED CT concept]
- Spinocerebellar degeneration-corneal dystrophy syndrome [ORDO Disease]
- corneal cerebellar syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Corneal opacity [HPO term]
- Intellectual disability [HPO term]
- Opacification of the corneal stroma [HPO term]
- Severely reduced visual acuity [HPO term]
- Spinocerebellar tract degeneration [HPO term]
ORDO concept(s)
- Spinocerebellar degeneration-corneal dystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal cerebellar syndrome [MeSH concept]
- Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) [SNOMED CT concept]
- Spinocerebellar degeneration-corneal dystrophy syndrome [ORDO Disease]
- corneal cerebellar syndrome [MeSH Supplementary Concept]

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