ORPHA:294981
Isolated absence of both lower leg and foot
Synonyms: Isolated congenital tibiofibular terminal transverse meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated absence of both lower leg and foot | Isolated congenital tibiofibular terminal transverse meromelia |
| fr | Absence isolée de la jambe et du pied | Méromélie terminale transverse tibio-fibulaire isolée · Méromélie terminale transverse tibio-péronière isolée |
| de | Isoliertes angeborenes Fehlen von Unterschenkel und Fuß | Isolierte kongenitale tibio-fibulare terminaltransverse Meromelie |
| es | Ausencia aislada de la parte inferior de la pierna y del pie | Meromelia terminal transversa congénita aislada de tibia-peroné |
| it | Agenesia isolata della porzione inferiore della gamba e del piede | Meromelia congenita isolata tibiofibulare trasversale terminale |
| nl | Geïsoleerde afwezigheid van onderbeen en voet | Geïsoleerde congenitale tibiofibulaire terminale transversale meromelie |
| pt | Ausência isolada da região inferior da perna e pé | Meromelia terminal transversa tibio-peronial isolada congénita |
| pl | Izolowany brak dolnej części kończyny dolnej i stopy | = en |
| cs | Vrozené chybění bérce a nohy | Tibiofibulární terminální transverzální meromelie |
| uk | Ізольована відсутність гомілки та стопи | Ізольована вроджена тибіофібулярна термінальна поперечна меромелія |
| zh | 先天性小腿和足部缺失 | 胫腓末端横贯残肢畸形 |
| tr | Doğumsal alt bacak ve ayak yokluğu | Tibiofibular terminal transvers meromeli |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.2 | E | specific | validated |
| ICD-11 | LB9A.7 | E | specific | validated |
| MONDO | 0017444 | E | validated | |
| UMLS | C5925025 | 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:498491Non-syndromic complete hemimelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295097OBSOLETE: Congenital absence of both lower leg and foot, unilateral referred to · inactive
- ORPHA:295099OBSOLETE: Congenital absence of both lower leg and foot, 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/294981
- This record as JSON: /data/d/294981.json