ORPHA:658540
16q22 deletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16q22 deletion syndrome | |
| fr | Syndrome de délétion 16q22 | |
| de | 16q22-Deletionssyndrom | |
| es | Síndrome de deleción 16q22 | |
| it | Sindrome da delezione 16q22 | |
| nl | 16q22-deletiesyndroom | |
| pt | Síndrome de deleção 16q22 | |
| pl | Zespół delecji 16q22 | |
| cs | Syndrom delece 16q22 | |
| uk | Синдром делеції 16q22 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614541 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0013798 | E | validated | |
| MONDO | 13798 | E | validated | |
| UMLS | C5925109 | 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 (3):
- 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:262128Partial deletion of the long arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/658540
- This record as JSON: /data/d/658540.json