ORPHA:68383
Rare constitutional aplastic anemia
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare constitutional aplastic anemia | |
| fr | Aplasie médullaire constitutionnelle rare | |
| de | Aplastische Anämie, konstitutionelle seltene | |
| es | Anemia aplásica constitucional rara | |
| it | Anemia aplastica costituzionale rara | |
| nl | Zeldzame constitutionele aplastische anemie | |
| pt | Anemia aplásica constitucional rara | |
| pl | Rzadka aplazja szpiku | |
| cs | Vzácná konstituční aplastická anémie | |
| uk | Рідкісна конституційна апластична анемія | |
| zh | 罕见造血组分相关再生障碍性贫血 | |
| tr | Nadir yapısal aplastik anemi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D61.0 | NTBT | specific | validated |
| MONDO | 1713 | E | validated | |
| UMLS | C5681331 | 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 (2):
- ORPHA:182040Rare aplastic anemia
rare hematological diseases; rare transplant-related disorders - ORPHA:183651Rare constitutional anemia
rare genetic diseases
Children (13):
- ORPHA:611216Aplastic anemia-intellectual disability-dwarfism syndrome
- ORPHA:314399Autosomal dominant aplasia and myelodysplasia
- ORPHA:725898Bone marrow failure-diabetes mellitus syndrome
- ORPHA:3319Congenital amegakaryocytic thrombocytopenia
- ORPHA:124Diamond-Blackfan anemia
- ORPHA:1775Dyskeratosis congenita
- ORPHA:84Fanconi anemia
- ORPHA:3322Hoyeraal-Hreidarsson syndrome
- ORPHA:401764Pancytopenia-developmental delay syndrome
- ORPHA:726036Red cell aplasia-microcephaly-seizure-developmental delay syndrome
- ORPHA:3088Revesz syndrome
- ORPHA:811Shwachman-Diamond syndrome
- ORPHA:3466WT limb-blood 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68383
- This record as JSON: /data/d/68383.json