Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5066475013 | Lethal acantholytic erosive disorder | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5066476014 | Lethal acantholytic erosive disorder (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5066479019 | Lethal acantholytic epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5066477017 | A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5066478010 | A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal acantholytic erosive disorder | est un(e) (attribut) | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some | ||
| Lethal acantholytic erosive disorder | est un(e) (attribut) | Suprabasal epidermolysis bullosa simplex (disorder) | true | Inferred relationship | Some | ||
| Lethal acantholytic erosive disorder | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Lethal acantholytic erosive disorder | localisation d'une constatation (attribut) | Stratum germinativum | true | Inferred relationship | Some | 1 | |
| Lethal acantholytic erosive disorder | morphologie associée (attribut) | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Lethal acantholytic erosive disorder | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR