ORPHA:98142
Partial autosomal deletion syndrome
Synonyms: Partial autosomal monosomy
- 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 | Partial autosomal deletion syndrome | Partial autosomal monosomy |
| fr | Syndrome de délétions partielles des autosomes | Monosomies partielles des autosomes |
| de | Partielle autosomale Deletion | Autosomale Deletion, partielle · Partielle autosomale Monosomie |
| es | Síndrome de deleción parcial de autosomas | Monosomía parcial de los autosomas |
| it | Delezione autosomica parziale | Monosomia autosomica parziale |
| nl | Partiële autosomale deletie-syndroom | Partiële autosomale monosomie |
| pt | Deleção autossómica parcial | Monossomia autossómica parcial |
| pl | Zespół częściowej delecji autosomu | Częściowa delecja autosomalna · Częściowa delecja autosomu |
| cs | Monozomie části autozomů | Parciální delece autozomů |
| uk | Часткова аутосомна делеція | Часткова аутосомна моносомія |
| zh | 部分常染色体单体 | 部分常染色体缺失 |
| tr | Kısmi otozomal monozomi | Kısmi otozomal delesyon |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.Y | NTBT | attributed | validated |
| UMLS | C5816695 | 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:102020Autosomal monosomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (22):
- ORPHA:261766Partial deletion of chromosome 1 syndrome
- ORPHA:261811Partial deletion of chromosome 10 syndrome
- ORPHA:261816Partial deletion of chromosome 11 syndrome
- ORPHA:282124Partial deletion of chromosome 12 syndrome
- ORPHA:261826Partial deletion of chromosome 16 syndrome
- ORPHA:261831Partial deletion of chromosome 17 syndrome
- ORPHA:261836Partial deletion of chromosome 18 syndrome
- ORPHA:261841Partial deletion of chromosome 19 syndrome
- ORPHA:261771Partial deletion of chromosome 2 syndrome
- ORPHA:261846Partial deletion of chromosome 20 syndrome
- ORPHA:261776Partial deletion of chromosome 3 syndrome
- ORPHA:261781Partial deletion of chromosome 4 syndrome
- ORPHA:261786Partial deletion of chromosome 5 syndrome
- ORPHA:261791Partial deletion of chromosome 6 syndrome
- ORPHA:261796Partial deletion of chromosome 7 syndrome
- ORPHA:261801Partial deletion of chromosome 8 syndrome
- ORPHA:261806Partial deletion of chromosome 9 syndrome
- ORPHA:262101Partial deletion of the long arm of chromosome 13 syndrome
- ORPHA:262110Partial deletion of the long arm of chromosome 14 syndrome
- ORPHA:262119Partial deletion of the long arm of chromosome 15 syndrome
- ORPHA:262173Partial deletion of the long arm of chromosome 21 syndrome
- ORPHA:262182Partial deletion of the long arm of chromosome 22 syndrome
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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/98142
- This record as JSON: /data/d/98142.json