ORPHA:48918
Focal myositis
Synonyms: Focal nodular myositis · Inflammatory pseudotumor of skeletal muscle
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal myositis | Focal nodular myositis · Inflammatory pseudotumor of skeletal muscle |
| fr | Myosite focale | Myosite focale nodulaire · Pseudotumeur inflammatoire des muscles squelettiques |
| de | Myositis, fokale | Inflammatorischer Pseudotumor der Skelettmuskulatur · Myositis, fokale noduläre |
| es | Miositis focal | Miositis focal nodular · Pseudotumor inflamatorio del músculo esquelético |
| it | Miosite focale | Miosite nodulare focale · Pseudotumore infiammatorio del muscolo scheletrico |
| nl | Focale myositis | Focale nodulaire myositis · Inflammatoire pseudotumor van skeletspier |
| pt | Miosite focal | |
| pl | Ogniskowe zapalenie mięśni | Ogniskowe guzkowe zapalenie mięśni · Zapalny pseudoguz mięśnia szkieletowego |
| cs | Fokální myozitida | Fokální nodulární myozitida · Zánětlivý pseudonádor kosterního svalstva |
| uk | Фокальний міозит | Вогнищевий вузликовий міозит · Запальна псевдопухлина скелетних мязів |
| zh | 局灶性肌炎 | 骨骼肌炎性假瘤 |
| tr | Odak miyozit | Fokal nodüler miyozit · İskelet kasının inflamatuar psödotümörü |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M60.8 | NTBT | attributed | validated |
| ICD-11 | 4A41.Y | NTBT | index | validated |
| MONDO | 0018845 | E | validated | |
| UMLS | C0751357 | E | validated | |
| MedDRA | 10081943 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98482Idiopathic inflammatory myopathy
rare neurological diseases; rare systemic and rheumatological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 115 cases | Worldwide | Case(s) | Validated | 15546587[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100614 | Myositis | |
| Frequent (79-30%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| Occasional (29-5%) | ||
| HP:0001945 | Fever | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0001824 | Weight loss | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48918
- This record as JSON: /data/d/48918.json