Epidermolysis bullosa dystrophica neurotrophica

Preferred Label : Epidermolysis bullosa dystrophica neurotrophica;

CISMeF acronym : EBR3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : EBR3; Epidermolysis bullosa with congenital deafness; Epidermolysis bullosa progressiva, recessive;

Inheritance : Autosomal recessive; ? separate linked auditory and cutaneous loci;

Prefixed ID : %226500;

Details

Origin ID

226500;

UMLS CUI

C0268368;

Automatic exact mappings (from CISMeF team)
- progressive recessive dystrophic epidermolysis bullosa [SNOMED Notion]
Broader ORDO disease(s)
- Dystrophic epidermolysis bullosa [ORDO Disease]
Currated CISMeF NLP mapping
- Progressive recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- epidermolysis bullosa dystrophica neurotrophica [MeSH concept]
- epidermolysis bullosa dystrophica neurotrophica [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Congenital, slowly progressive sensorineural hearing impairment [HPO term]
- Diffuse slow skin atrophy [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- epidermolysis bullosa dystrophica neurotrophica [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica neurotrophica [MeSH concept]
- progressive recessive dystrophic epidermolysis bullosa [SNOMED Notion]

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