Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Preferred Label : Epidermolysis Bullosa Dystrophica, Autosomal Recessive;

NCIt synonyms : RDEB; Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa;

NCIt related terms : Recessive Dystrophic Epidermolysis Bullosa;

NCIt definition : An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.;

Details

Origin ID

C156446;

UMLS CUI

C0079474;

Currated CISMeF NLP mapping
- Epidermolysis bullosa dystrophica, autosomal recessive [OMIM Phenotype]
- Recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- recessive dystrophic epidermolysis bullosa [DO Concept]
- recessive dystrophic epidermolysis bullosa [SNOMED Notion]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
- Epidermolysis bullosa dystrophica, autosomal recessive [OMIM Phenotype]
- Hallopeau-Siemens disease [MeSH concept]
- Recessive dystrophic epidermolysis bullosa [MedDRA LLT]
- Recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- recessive dystrophic epidermolysis bullosa [DO Concept]
- recessive dystrophic epidermolysis bullosa [SNOMED Notion]
Validated automatic mappings to NTBT
- epidermolysis bullosa dystrophica [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- COL7A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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