Isolated amelia of upper limb
Synonyms: Isolated congenital absence of upper limb
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated amelia of upper limb | Isolated congenital absence of upper limb |
| fr | Amélie isolée des membres supérieurs | Agénésie isolée congénitale des membres supérieurs |
| de | Isolierte Amelie der oberen Extremitäten | Isoliertes angeborenes Fehlen der oberen Gliedmaßen |
| es | Amelia aislada de las extremidades superiores | Ausencia congénita aislada de las extremidades superiores |
| it | Amelia degli arti superiori isolata | Assenza congenita isolata degli arti superiori |
| nl | Geïsoleerde amelie van bovenste ledemaat | Geïsoleerde congenitale afwezigheid van bovenste ledemaat |
| pt | Amelia do membro superior isolada | Ausência congénita do membro superior isolada |
| pl | Izolowany brak kończyny górnej | = en |
| cs | Amelie horní končetiny | = en |
| uk | Ізольована амелія верхньої кінцівки | Ізольована вроджена відсутність верхньої кінцівки |
| zh | 上肢残缺 | |
| tr | Üst ekstremite amelisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.0 | E | specific | validated |
| ICD-11 | LB99.0 | E | specific | validated |
| MONDO | 0017437 | E | validated | |
| UMLS | C5925029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:295053OBSOLETE: Amelia of upper limb, unilateral referred to · inactive
- ORPHA:295055OBSOLETE: Amelia of upper limb, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294967
- This record as JSON: /data/d/294967.json