ORPHA:294983
Isolated acheiria
Synonyms: Isolated congenital absence of hand
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated acheiria | Isolated congenital absence of hand |
| fr | Acheirie isolée | Absence isolée congénitale de mains · Achirie isolée |
| de | Acheirie, isolierte | Isoliertes angeborenes Fehlen der Hand |
| es | Aquiria aislada | Ausencia congénita aislada de la mano |
| it | Acheiria isolata | Assenza isolata delle mani |
| nl | Geïsoleerde acheirie | Geïsoleerde congenitale afwezigheid van hand |
| pt | Aqueiria isolada | Ausência da mão isolada congénita |
| pl | Izolowany brak dloni | Wrodzony brak dłoni |
| cs | Acheirie | Vrozené chybění ruky |
| uk | Ізольована ахейрія | Ізольована вроджена відсутність руки |
| zh | 手部缺失畸形 | 先天性手缺如 |
| tr | Akeyri | Doğumsal el yokluğu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.3 | E | specific | validated |
| ICD-11 | LB99.6 | E | specific | validated |
| MONDO | 0017445 | E | validated | |
| UMLS | C5925026 | 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:498461Non-syndromic terminal transverse limb defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295101OBSOLETE: Acheiria, unilateral referred to · inactive
- ORPHA:295103OBSOLETE: Acheiria, bilateral referred to · inactive
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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/294983
- This record as JSON: /data/d/294983.json