ORPHA:294971
Isolated tetra-amelia
Synonyms: Isolated total amelia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated tetra-amelia | Isolated total amelia |
| fr | Tétra-amélie isolée | Amélie complète isolée |
| de | Tetraamelie, isolierte | Amelie, isolierte totale |
| es | Tetra-amelia aislada | Amelia total aislada |
| it | Tetra-amelia isolata | Amelia totale isolata |
| nl | Geïsoleerde tetra-amelie | Geïsoleerde totale amelie |
| pt | Tetra-amelia isolada | Amelia total isolada |
| pl | Izolowany brak wszystkich kończyn | Całkowity brak kończyn |
| cs | Tetraamelie | Totální amelie |
| uk | Ізольована тетраамелія | Ізольована тотальна амелія |
| zh | 四肢残缺 | 全无肢 |
| tr | Tetra-ameli | Total amelia |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q73.0 | NTBT | attributed | validated |
| ICD-11 | LB9B | NTBT | index | validated |
| MONDO | 0017439 | E | validated | |
| MeSH | C536498 | E | validated | |
| UMLS | C5925028 | E | validated | |
| GARD | 5148 | 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:294925Non-syndromic amelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/294971
- This record as JSON: /data/d/294971.json