ORPHA:687738
Single-system multifocal Langerhans cell histiocytosis
Synonyms: Single-system multifocal Langerhans cell granulomatosis · Single-system multifocal histiocytosis X
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Single-system multifocal Langerhans cell histiocytosis | Single-system multifocal Langerhans cell granulomatosis · Single-system multifocal histiocytosis X |
| fr | Histiocytose langerhansienne, mono-systémique multifocale | Histiocytose X mono-systémique multifocal |
| de | Langerhans-Zell-Histiozytose, monosystemische multifokale | Histiozytose X, monosystemische · Langerhans-Zell-Granulomatose, monosystemische multifokale |
| es | Histiocitosis de células de Langerhans monosistémica multifocal | Granulomatosis de células de Langerhans monosistémica multifocal · Histiocitosis X monosistémica multifocal |
| it | Single-system multifocal Langerhans cell histiocytosis | |
| nl | Unisystemische multifocale langerhanscelhistiocytose | Unisystemische multifocale histiocytose X · Unisystemische multifocale langerhanscelgranulomatose |
| pt | Histiocitose de células Langerhans multifocal unissistémica | Granulomatose de células Langerhans multifocal unissistémica · Histiocitose X multifocal unissistémica |
| pl | Jednoukładowa wieloogniskowa histiocytoza z komórek Langerhansa | = en |
| cs | Jednosystémová multifokální histiocytóza z Langerhansových buněk | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.5 | E | specific | 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:389Langerhans cell histiocytosis
rare respiratory diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22996177[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/687738
- This record as JSON: /data/d/687738.json