Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424003010 | Epidermolysis bullosa simplex with muscular dystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424004016 | Epidermolysis bullosa simplex with muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424005015 | Limb girdle muscular dystrophy with epidermolysis bullosa simplex | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424006019 | A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424007011 | A basal subtype of epidermolysis bullosa simplex characterised by generalised blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often haemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. 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 |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Musculoskeletal and connective tissue disorder (disorder) | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Basal epidermolysis bullosa simplex (disorder) | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 5 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Stratum germinativum | false | Inferred relationship | Some | 5 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 6 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Congenital anomaly of skeletal muscle | false | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Stratum germinativum | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 1 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Chronic disease of skin | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Epidermolysis bullosa simplex with muscular dystrophy (disorder) | Is a | Autosomal recessive epidermolysis bullosa simplex | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets