Isolated amelia of lower limb
Synonyms: Isolated congenital absence of lower 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 lower 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 lower limb | Isolated congenital absence of lower limb |
| fr | Amélie isolée des membres inférieurs | Agénésie isolée congénitale des membres inférieurs |
| de | Isolierte Amelie der unteren Extremitäten | Isoliertes angeborenes Fehlen der unteren Gliedmaßen |
| es | Amelia aislada de las extremidades inferiores | Ausencia congénita aislada de las extremidades inferiores |
| it | Amelia degli arti inferiori isolata | Assenza congenita isolata degli arti inferiori |
| nl | Geïsoleerde amelie van onderste ledemaat | Geïsoleerde congenitale afwezigheid van onderste ledemaat |
| pt | Amelia do membro inferior isolada | Ausência congénita do membro inferior isolada |
| pl | Izolowany brak kończyny dolnej | = en |
| cs | Amelie dolní končetiny | = en |
| uk | Ізольована амелія нижньої кінцівки | Ізольована вроджена відсутність нижньої кінцівки |
| zh | 下肢残缺 | |
| tr | Alt ekstremite amelisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.0 | E | specific | validated |
| ICD-11 | LB9A.0 | E | specific | validated |
| MONDO | 0017438 | E | validated | |
| UMLS | C5925027 | 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:295057OBSOLETE: Amelia of lower limb, unilateral referred to · inactive
- ORPHA:295059OBSOLETE: Amelia of lower 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/294969
- This record as JSON: /data/d/294969.json