ORPHA:506219
Rare disorder potentially indicated for hematopoietic stem cell transplant
- 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 | Rare disorder potentially indicated for hematopoietic stem cell transplant | |
| fr | Maladie rare possiblement indiquée pour la transplantation de cellules souches hématopoïétiques | |
| de | Seltene Erkrankung zur potentiellen hämatopoetischen Stammzell-Transplantation indiziert | |
| es | Trastorno raro potencialmente indicado para trasplante de células madre hematopoyéticas | |
| it | Malattia rara con indicazione al trapianto di cellule staminali ematopoietiche | |
| nl | Zeldzame aandoening mogelijk geïndiceerd voor hematopoëtische stamceltransplantatie | |
| pt | Doença rara com potencial indicação para transplante de células tronco hematopoiéticas | |
| pl | Choroba rzadka będąca potencjalnym wskazaniem do przeszczepu hematopoetycznych komórek macierzystych | |
| cs | Vzácná porucha indikovaná k transplantaci hematopoetických kmenových buněk | |
| uk | Рідкісне захворювання, що є потенційним показанням для трансплантації гемопоетичних стовбурових клітин | |
| zh | 可能适用于造血干细胞移植的罕见疾病 | |
| tr | Hematopoietik kök hücre nakli için potansiyel olarak endike olan nadir bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681214 | 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):
- ORPHA:565779Rare disorder potentially indicated for transplant or complication after transplantation
Parents in the classifications (1):
- ORPHA:506207Rare disorder potentially indicated for transplant
rare transplant-related disorders
Children (26):
- ORPHA:437552Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- ORPHA:169090Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:221139Combined immunodeficiency with facio-oculo-skeletal anomalies
- ORPHA:436252Combined immunodeficiency-multiple intestinal atresia
- ORPHA:101987Congenital neutropenia
- ORPHA:714493Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
- ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
- ORPHA:309810Disorder of peroxisomal alpha-, beta- and omega-oxidation
- ORPHA:658951Early-onset immune dysregulation due to DOCK11 complete deficiency
- ORPHA:370334Extraskeletal Ewing sarcoma
- ORPHA:3399Germ cell tumor
- ORPHA:68364Hemoglobinopathy
- ORPHA:98813Hypohidrotic ectodermal dysplasia with immunodeficiency
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
- ORPHA:331240Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
- ORPHA:171898Lymphoid hemopathy
- ORPHA:79213Mucopolysaccharidosis
- ORPHA:171895Myeloid hemopathy
- ORPHA:480549Non-severe combined immunodeficiency
- ORPHA:2781Osteopetrosis and related disorders
- ORPHA:668Osteosarcoma
- ORPHA:158038Primary hemophagocytic lymphohistiocytosis
- ORPHA:182040Rare aplastic anemia
- ORPHA:183660Severe combined immunodeficiency
- ORPHA:79225Sphingolipidosis
- ORPHA:906Wiskott-Aldrich syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506219
- This record as JSON: /data/d/506219.json