ORPHA:294986
Isolated apodia
Synonyms: Isolated congenital absence of foot
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated apodia | Isolated congenital absence of foot |
| fr | Apodie isolée | Absence isolée congénitale de pied |
| de | Apodie, isolierte | Isoliertes angeborenes Fehlen des Fußes |
| es | Apodia aislada | Ausencia congénita aislada del pie |
| it | Apodia isolata | Assenza isolata dei piedi |
| nl | Geïsoleerde apodie | Geïsoleerde congenitale afwezigheid van voet |
| pt | Apodia isolada | Ausência do pé isolada congénita |
| pl | Izolowany brak stóp | Brak stóp |
| cs | Apodie | Vrozené chybění nohy |
| uk | Ізольована аподія | Ізольована вроджена відсутність стопи |
| zh | 足部缺失畸形 | 先天性足缺如 |
| tr | Apodi | Doğumsal ayak yokluğu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.3 | E | specific | validated |
| ICD-11 | LB9A.4 | E | specific | validated |
| MONDO | 0017446 | E | validated | |
| UMLS | C5925023 | 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:295105OBSOLETE: Apodia, unilateral referred to · inactive
- ORPHA:295107OBSOLETE: Apodia, 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/294986
- This record as JSON: /data/d/294986.json