Vitreoretinal degeneration, snowflake type

Preferred Label : Vitreoretinal degeneration, snowflake type;

Symbol : SVD;

CISMeF acronym : SVD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Snowflake vitreoretinal degeneration;

Inheritance : Autosomal dominant;

Prefixed ID : #193230;

Details

Origin ID

193230;

UMLS CUI

C1860405;

Automatic exact mappings (from CISMeF team)
- Snowflake vitreoretinal degeneration [ICD-11 More detail]
- Swine vesicular disease (disorder) [Inactive SNOMED CT concept]
- snowflake vitreoretinal degeneration [DO Concept]
Currated CISMeF NLP mapping
- Snowflake vitreoretinal degeneration [HPO term]
- Snowflake vitreoretinal degeneration [MeSH concept]
- Snowflake vitreoretinal degeneration [ORDO Disease]
- snowflake type vitreoretinal degeneration [Disease (Nov.)]
- snowflake vitreoretinal degeneration [MeSH Supplementary Concept]
DO Cross reference
- snowflake vitreoretinal degeneration [DO Concept]
False automatic mappings
- Sudan virus disease [ICD-11 Sub-sub category]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 13 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Corneal guttata [HPO term]
- Optically empty vitreous [HPO term]
- Retinal detachment [HPO term]
- Retinal dots [HPO term]
- Snowflake vitreoretinal degeneration [HPO term]
ORDO concept(s)
- Snowflake vitreoretinal degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Snowflake vitreoretinal degeneration [ORDO Disease]
- Snowflake vitreoretinal degeneration [MeSH concept]
- Snowflake vitreoretinal degeneration [HPO term]
- snowflake type vitreoretinal degeneration [Disease (Nov.)]
- snowflake vitreoretinal degeneration [MeSH Supplementary Concept]
- snowflake vitreoretinal degeneration [DO Concept]

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