epidermolysis bullosa dystrophica

Preferred Label : epidermolysis bullosa dystrophica;

MeSH definition : Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.;

MeSH synonym : bullosa dystrophica, epidermolysis; bullosa, dystrophic epidermolysis; dystrophic epidermolysis bullosas; dystrophica, epidermolysis bullosa; dystrophicas, epidermolysis bullosa; bullosa dystrophicas, epidermolysis; epidermolysis bullosa dystrophicas; epidermolysis bullosa, dystrophic; dystrophic epidermolysis bullosa; bullosas, dystrophic epidermolysis; epidermolysis bullosas, dystrophic;

MeSH hyponym : Cockayne-Touraine disease; Hallopeau-Siemens disease; Hallopeau Siemens Disease; Epidermolysis Bullosa Dystrophica, Autosomal Recessive; Dystrophic Epidermolysis Bullosa, Autosomal Recessive; Epidermolysis Bullosa Dystrophica, Recessive; Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type; Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type; Cockayne Touraine Disease; Cockayne-Touraine Type Epidermolysis Bullosa; Cockayne Touraine Type Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica, Dominant; Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type;

Wikipedia link : https://en.wikipedia.org/wiki/Epidermolysis bullosa dystrophica;

Details

Origin ID

D016108;

UMLS CUI

C0079294;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Autosomal dominant dystrophic epidermolysis bullosa [ICD-11 More detail]
- Autosomal recessive dystrophic epidermolysis bullosa [ICD-11 More detail]
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
Currated CISMeF NLP mapping
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Dystrophic epidermolysis bullosa [ICD-11 Category]
- Dystrophic epidermolysis bullosa [MedDRA LLT]
- Dystrophic epidermolysis bullosa [ORDO Disease]
- Dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis Bullosa Dystrophica [NCIt concept]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category (who)]
- epidermolysis bullosa dystrophica [DO Concept]
- epidermolysis bullosa dystrophica [Disease (Nov.)]
DO Cross reference
- epidermolysis bullosa dystrophica [DO Concept]
Manual BTNT mappings - CISMeF
- Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type [ORDO Disease]
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini type [ORDO Disease]
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form [ORDO Disease]
- Centripetalis recessive dystrophic epidermolysis bullosa [ORDO Disease]
- Dystrophic epidermolysis bullosa pruriginosa [ORDO Disease]
- Localized dystrophic epidermolysis bullosa, acral form [ORDO Disease]
- Localized dystrophic epidermolysis bullosa, nails only [ORDO Disease]
- Localized dystrophic epidermolysis bullosa, pretibial form [ORDO Disease]
- Self-improving dystrophic epidermolysis bullosa [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
Record concept(s)
- Cockayne-Touraine disease [MeSH concept]
- Hallopeau-Siemens disease [MeSH concept]
- epidermolysis bullosa dystrophica [MeSH concept]
Related MeSH Supplementary Concept(s)
- epidermolysis bullosa dystrophica inversa, autosomal recessive [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica neurotrophica [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica with subcorneal cleavage [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica, autosomal recessive, localisata variant [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica, pasini type [MeSH Supplementary Concept]
- epidermolysis bullosa pruriginosa [MeSH Supplementary Concept]
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH Supplementary Concept]
- epidermolysis bullosa, pretibial [MeSH Supplementary Concept]
- transient bullous dermolysis of the newborn [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophic epidermolysis bullosa [ORDO Disease]
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Dystrophic epidermolysis bullosa [ICD-11 Category]
- Dystrophic epidermolysis bullosa [MedDRA LLT]
- Dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis Bullosa Dystrophica [NCIt concept]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category (who)]
- epidermolysis bullosa dystrophica [DO Concept]
- epidermolysis bullosa dystrophica [Disease (Nov.)]
Validated automatic mappings to BTNT
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
- Dominant dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis Bullosa Dystrophica, Autosomal Recessive [NCIt concept]
- Epidermolysis bullosa dystrophica, autosomal dominant [OMIM Phenotype]
- Epidermolysis bullosa dystrophica, autosomal recessive [OMIM Phenotype]
- Pretibial epidermolysis bullosa (disorder) [SNOMED CT concept]
- Recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Recessive dystrophic epidermolysis bullosa inversa [ORDO Disease]
- dominant dystrophic epidermolysis bullosa [SNOMED Notion]
- dominant dystrophic epidermolysis bullosa with absence of skin [SNOMED Notion]
- pretibial epidermolysis bullosa [SNOMED Notion]
- recessive dystrophic epidermolysis bullosa [SNOMED Notion]

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