ORPHA:397695
3q27.3 microdeletion syndrome
Synonyms: Del(3)(q27.3)
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q27.3 microdeletion syndrome | Del(3)(q27.3) |
| fr | Syndrome de microdélétion 3q27.3 | = en |
| de | Mikrodeletionssyndrom 3q27.3 | = en |
| es | Síndrome de microdeleción 3q27.3 | = en |
| it | Sindrome da microdelezione 3q27.3 | = en |
| nl | 3q27.3-microdeletiesyndroom | = en |
| pt | Síndrome de microdeleção 3q27.3 | |
| pl | Zespół mikrodelecji 3q27.3 | = en |
| cs | Mikrodeleční syndrom 3q27.3 | = en |
| uk | Синдром мікроделеції 3q27.3 | = en |
| zh | 3q27.3微缺失综合征 | 3q27.3缺失 |
| tr | 3q27.3 mikrodelesyon sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018341 | E | validated | |
| UMLS | C4749427 | 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 (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:262019Partial deletion of the long arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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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/397695
- This record as JSON: /data/d/397695.json