ORPHA:294977
Isolated absence of thigh and lower leg with foot present
Synonyms: Isolated congenital femoro-tibio-fibular intercalary transverse meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated absence of thigh and lower leg with foot present | Isolated congenital femoro-tibio-fibular intercalary transverse meromelia |
| fr | Absence isolée de la cuisse et de la jambe avec pied conservé | Méromélie intercalaire transverse fémoro-tibio-fibulaire isolée · Méromélie intercalaire transverse fémoro-tibio-péronier isolée |
| de | Isoliertes Fehlen von Ober- und Unterschenkel bei vorhandenem Fuß | Isolierte kongenitale femoro-tibio-fibulare interkalartransverse Meromelie |
| es | Ausencia aislada del muslo y la parte baja de la pierna con presencia del pie | Meromelia intercalar transversa congénita aislada de fémur-tibia-peroné |
| it | Aplasia isolata della coscia e della porzione inferiore della gamba in presenza del piede | Meromelia congenita isolata femoro-tibio-fibulare trasversale intercalare |
| nl | Geïsoleerde afwezigheid van dij en onderbeen met voet aanwezig | Geïsoleerde congenitale femorotibiofibulaire intercalaire transversale meromelie |
| pt | Ausência isolada da coxa e região inferior da perna com pé presente | Meromelia intercalar transversa fémuro-tibio-peronial isolada congénita |
| pl | Izolowany brak uda i podudzia przy obecności stopy | = en |
| cs | Vrozené chybění stehna a bérce s přítomností nohy | Femorotibiofibulární interkalární transverzální meromelie · Kompletní fokomelie dolní končetiny |
| uk | Ізольована відсутність стегна та гомілки при наявності стопи | Ізольована вроджена стегново-тібіо-фібулярна інтеркалярна поперечна меромелія |
| zh | 先天性大腿和小腿缺失并有足部存在 | 股胫腓骨骨干横贯残肢畸形 |
| tr | Doğumsal ayak mevcutken uyluk ve alt bacak yokluğu | Femorotibiofibular interkalar transvers meromeli |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q72.1 | E | specific | validated |
| ICD-11 | LB9A.3 | E | specific | validated |
| MONDO | 0017442 | E | validated | |
| UMLS | C5925019 | 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:294927Non-syndromic intercalary limb defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295089OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral referred to · inactive
- ORPHA:295091OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
5
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/294977
- This record as JSON: /data/d/294977.json