ORPHA:139436
Multicentric reticulohistiocytosis
Synonyms: Giant cell histiocytomatosis · Lipoid dermatoarthritis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multicentric reticulohistiocytosis | Giant cell histiocytomatosis · Lipoid dermatoarthritis |
| fr | Réticulohistiocytose multicentrique | Dermatoarthrite lipoïdique · Hystiocytomatose à cellules géantes |
| de | Retikulohistiozytose, multizentrische | Lipoiddermatoarthritis |
| es | Reticulohistiocitosis multicéntrica | Dermoartritis lipoidea |
| it | Reticoloistiocitosi multicentrica | Dermatoartrite lipoide |
| nl | Multicentrische reticulohistiocytose | Lipoïde dermatoartritis · Reuscelhistiocytomatose |
| pt | Reticulohistiocitose multicêntrica | |
| pl | Retikulohistiocytoza wieloogniskowa | Histiocytomatoza wielokomórkowa · Lipoidowe zapalenie skórno-stawowe |
| cs | Multicentrická retikulohistiocytóza | Dermatoarthritis lipoidica · MR · Obrovskobuněčná histiocytomatóza |
| uk | Мультицентричний ретикулогістіоцитоз | Гігантоклітинний гістіоцитоматоз · Ліпоїдний дерматоартрит |
| zh | 多中心性网状组织细胞增多症 | 巨细胞性组织细胞瘤 |
| tr | Çok merkezli retikülohistiyositoz | Lipoid dermatoartrit · Dev hücreli histiyositomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.3 | NTBT | attributed | validated |
| ICD-11 | EE8Y | NTBT | index | validated |
| MONDO | 0015347 | E | validated | |
| UMLS | C0311284 | E | validated | |
| GARD | 7103 | E | validated | |
| MedDRA | 10070595 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:157987Non-Langerhans cell histiocytosis
rare skin 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 | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001369 | Arthritis | |
| HP:0100727 | Histiocytosis | |
| HP:0200036 | Skin nodule | |
| Occasional (29-5%) | ||
| HP:0004326 | Cachexia | |
| HP:0001945 | Fever | |
| HP:0001324 | Muscle weakness | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139436
- This record as JSON: /data/d/139436.json