ORPHA:331249
Primary hemophagocytic lymphohistiocytosis with hypopigmentation
Synonyms: Genetic HLH with hypopigmentation · Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Primary HLH with hypopigmentation
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hemophagocytic lymphohistiocytosis with hypopigmentation | Genetic HLH with hypopigmentation · Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Primary HLH with hypopigmentation |
| fr | Lymphohistiocytose hémophagocytaire primaire avec hypopigmentation | HLH génétique avec hypopigmentation · HLH primaire avec hypopigmentation · Hémophagocytose lymphohistiocytaire génétique avec hypopigmentation · Hémophagocytose lymphohistiocytaire primaire avec hypopigmentation · Lymphohistiocytose hémophagocytaire génétique avec hypopigmentation |
| de | Primäre hämophagozytische Lymphohistiozytose mit Hypopigmentierung | Genetische Form der hämophagozytischen Lymphohistiozytose mit Hypopigmentierung · Primäre HLH mit Hypopigmentierung |
| es | Linfohistiocitosis hemofagocítica primaria con hipopigmentación | LHH familiar con hipopigmentación · LHH genética con hipopigmentación · LHH primaria con hipopigmentación · Linfohistiocitosis hemofagocítica familiar con hipopigmentación · Linfohistiocitosis hemofagocítica genética con hipopigmentación |
| it | Linfoistiocitosi emofagocitica primaria con ipopigmentazione | HLH genetica con ipopigmentazione · HLH primaria con ipopigmentazione · Linfoistiocitosi emofagocitica genetica con ipopigmentazione |
| nl | Primaire hemofagocytaire lymfohistiocytose met hypopigmentatie | Genetische HLH met hypopigmentatie · Genetische hemofagocytaire lymfohistiocytose met hypopigmentatie · Primaire HLH met hypopigmentatie |
| pt | Linfohistiocitose hemofagocitica primária com hipopigmentação | HLH genética com hipopigmentação · HLH primária com hipopigmentação · Linfohistiocitose hemofagocitica genética com hipopigmentação |
| pl | Pierwotna limfohistiocytoza hemofagocytarna z hipopigmentacją | Pierwotna limfohistiocytoza hemofagocytarna z hipopigmentacją |
| cs | Syndrom imunodeficience s hypopigmentací | = en |
| uk | Первинний гемофагоцитарний лімфогістіоцитоз з гіпопігментацією | Генетичний гемофагоцитарний лімфогістіоцитоз з гіпопігментацією · Генетична HLH з гіпопігментацією · Первинна HLH з гіпопігментацією |
| zh | 免疫缺陷综合征伴色素减退 | |
| tr | Hipopigmentasyon ile seyreden immün yetmezlik sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.20 | E | specific | validated |
| MONDO | 18042 | E | validated | |
| UMLS | C5925007 | 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:158038Primary hemophagocytic lymphohistiocytosis
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/331249
- This record as JSON: /data/d/331249.json