ORPHA:687695
10p13-p14 deletion syndrome
Synonyms: Del(10)(p13p14) · Deletion 10p13-p14
- Type
- Malformation syndrome
- Group
- 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 | 10p13-p14 deletion syndrome | Del(10)(p13p14) · Deletion 10p13-p14 |
| fr | Syndrome de délétion 10p13-p14 | Del(10)(p13p14) · Délétion 10p13-p14 |
| de | Mikrodeletionssyndrom 10p13-p14 | = en |
| es | Síndrome de deleción 10p13-p14 | Del(10)(p13p14) · Deleción 10p13-p14 |
| it | 10p13-p14 deletion syndrome | |
| nl | 10p13-p14-deletiesyndroom | Del(10)(p13p14) · Deletie 10p13-p14 |
| pt | Síndrome de deleção 10p13-p14 | Del(10)(p13p14) · Deleção 10p13-p14 |
| pl | Zespół mikrodelecji 10p13-p14 | = en |
| cs | Syndrom delece 10p13-p14 | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601362 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.A1 | NTBT | attributed | validated |
| MONDO | 975905 | 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 (4):
- ORPHA:1580Distal deletion 10p syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases
No children.
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/687695
- This record as JSON: /data/d/687695.json