epidermolysis bullosa simplex, ogna type

Preferred Label : epidermolysis bullosa simplex, ogna type;

MeSH synonym : epidermolysis bullosa simplex 1; Ebs-Og;

Origin ID

C535962;

UMLS CUI

C0432317;

Currated CISMeF NLP mapping
- Autosomal dominant epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex 5a, ogna type [OMIM Phenotype]
- Epidermolysis bullosa simplex, Ogna [ICD-11 More detail]
- Epidermolysis bullosa simplex, Ogna type (disorder) [SNOMED CT concept]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- autosomal dominant epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex Ogna type [DO Concept]
Has phenotype(s) (HPO)
- Electron microscopic abnormality of the skin [HPO term]
- Generalized bruising tendency [HPO term]
- Onychogryphosis of large toenails [HPO term]
MeSH term(s) associated for indexing
- epidermolysis bullosa simplex [MeSH Descriptor]
ORDO relation(s)
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
Record concept(s)
- Epidermolysis bullosa simplex, Ogna type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex 5a, ogna type [OMIM Phenotype]
- Epidermolysis bullosa simplex, Ogna type (disorder) [SNOMED CT concept]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- epidermolysis bullosa simplex Ogna type [DO Concept]