Epidermolysis bullosa simplex

Preferred Label : Epidermolysis bullosa simplex;

ICD-10 exclusion note : Cockayne's syndrome (Q87.1);

Diag associé à un acte (%) : 71.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q810;

UMLS CUI

C0079298;

Automatic exact mappings (from CISMeF team)
- keratin 14 [HGNC gene]
Currated CISMeF NLP mapping
- Basal epidermolysis bullosa simplex [ICD-11 More detail]
- Epidermolysis Bullosa Simplex [NCIt concept]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
- Epidermolysis bullosa simplex [ICD-11 Category]
- Epidermolysis bullosa simplex [MedDRA LLT]
- Epidermolysis bullosa simplex [OMIM phenotypic series]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex (disorder) [Inactive SNOMED CT concept]
- epidermolysis bullosa simplex [MeSH concept]
- epidermolysis bullosa simplex [MeSH Descriptor]
- epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex [Disease (Nov.)]
- epidermolysis bullosa simplex [DO Concept]
DO Cross reference
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex Dowling-Meara type [DO Concept]
- epidermolysis bullosa simplex Ogna type [DO Concept]
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]
ICD-10 exclusion(s)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Basal epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex with anodontia/hypodontia [ORDO Disease]
- Suprabasal epidermolysis bullosa simplex [ORDO Disease]
Orphanet concepts
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form [ORDO Disease]
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form [ORDO Disease]
- Autosomal recessive generalized epidermolysis bullosa simplex [ORDO Disease]
- Basal epidermolysis bullosa simplex [ORDO Disease]
- Ectodermal dysplasia-skin fragility syndrome [ORDO Disease]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex due to BP230 deficiency [ORDO Disease]
- Epidermolysis bullosa simplex due to exophilin 5 deficiency [ORDO Disease]
- Epidermolysis bullosa simplex superficialis [ORDO Disease]
- Epidermolysis bullosa simplex with anodontia/hypodontia [ORDO Disease]
- Epidermolysis bullosa simplex with circinate migratory erythema [ORDO Disease]
- Epidermolysis bullosa simplex with mottled pigmentation [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
- Inherited epidermolysis bullosa [ORDO Disease]
- Lethal acantholytic erosive disorder [ORDO Disease]
- Localized epidermolysis bullosa simplex [ORDO Disease]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- Suprabasal epidermolysis bullosa simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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