ORPHA:96126
Distal deletion 7p syndrome
Synonyms: Distal monosomy 7p · Monosomy 7pter · Telomeric deletion 7p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 7p syndrome | Distal monosomy 7p · Monosomy 7pter · Telomeric deletion 7p |
| fr | Syndrome de délétion distale 7p | Délétion 7pter · Délétion télomérique 7p · Monosomie 7pter · Monosomie distale 7p · Monosomie télomérique 7p |
| de | Distale Deletion 7p | Deletion 7p, distale · Distale Monosomie 7p · Monosomie 7pter · Telomere Deletion 7p |
| es | Síndrome de deleción terminal 7p | Monosomía 7pter · Monosomía terminal 7p |
| it | Sindrome delezione 7p distale | Delezione 7p telomerica · Monosomia 7pter · Monosomia 7p distale |
| nl | Distale deletie 7p-syndroom | Distale monosomie 7p · Monosomie 7pter · Telomerische deletie 7p |
| pt | Deleção distal 7p | Deleção telomérica 7p · Monossomia 7pter · Monossomia distal 7p |
| pl | Zespół delecji dystalnej 7p | Delecja dystalna 7p · Delecja telomerowa 7p · Monosomia 7pter |
| cs | Distální monozomie 7p | Distální delece 7p · Monozomie 7pter · Telomerická delece 7p |
| uk | Дистальна делеція 7p | Дистальна моносомія 7p · Моносомія 7pter · Делеція теломерної ділянки 7p |
| zh | 7号染色体短臂远端单体 | 7号染色体短臂端粒缺失 |
| tr | Distal monozomi 7p | Monozomi 7pter · Distal delesyon 7p · Telomerik delesyon 7p |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.71 | NTBT | index | validated |
| MONDO | 0019892 | E | validated | |
| UMLS | C5190515 | 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:261911Partial deletion of the short arm of chromosome 7 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/96126
- This record as JSON: /data/d/96126.json