ORPHA:717784
Partial trisomy 12q syndrome
Synonyms: Partial duplication of chromosome 12q · Partial duplication of the long arm of chromosome 12 · Partial trisomy of chromosome 12q · Partial trisomy of the long arm of chromosome 12
- 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 | Partial trisomy 12q syndrome | Partial duplication of chromosome 12q · Partial duplication of the long arm of chromosome 12 · Partial trisomy of chromosome 12q · Partial trisomy of the long arm of chromosome 12 |
| fr | Syndrome de trisomie partielle 12q | Duplication partielle du bras long du chromosome 12 · Duplication partielle du chromosome 12q · Trisomie partielle du bras long du chromosome 12 · Trisomie partielle du chromosome 12q |
| de | Partielle Duplikation 12q | Chromosom 12q-Duplikation, partielle · Chromosom 12, partielle Duplikation des langen Arms · Partielle Trisomie des langen Arms von Chromosom 12 |
| es | Síndrome de trisomía parcial 12q | Duplicación parcial del brazo largo del cromosoma 12 · Duplicación parcial del cromosoma 12q · Trisomía parcial del brazo largo del cromosoma 12 · Trisomía parcial del cromosoma 12q |
| it | Sindrome da trisomia parziale 12q | Trisomia parziale del cromosoma 12q · Duplicazione parziale del cromosoma 12q · Trisomia parziale del braccio lungo del cromosoma 12 · Duplicazione parziale del braccio lungo del cromosoma 12 |
| nl | Partiële trisomie 12q-syndroom | Partiële trisomie van chromosoom 12q · Partiële duplicatie van chromosoom 12q · Partiële trisomie van de lange arm van chromosoom 12 · Partiële duplicatie van de lange arm van chromosoom 12 |
| pt | Partial trisomy 12q syndrome | |
| pl | Partial trisomy 12q syndrome | = en |
| cs | Partial trisomy 12q syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | 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:98132Partial autosomal duplication/triplication 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/717784
- This record as JSON: /data/d/717784.json