raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:295089

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

inactive · referred to ORPHA:294977Isolated absence of thigh and lower leg with foot present

Synonyms: OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

Type
Clinical subtype
Group
Subtype of disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Isolated absence of thigh and lower leg with foot present

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Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateralOBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral
frOBSOLETE : Absence congénitale unilatérale de la cuisse et de la jambe avec pied conservéOBSOLETE : Méromélie intercalaire transverse unilatérale fémoro-tibio-fibulaire · OBSOLETE : Méromélie intercalaire transverse unilatérale fémoro-tibio-péronier
deOBSOLET: Angeborenes einseitiges Fehlen des Unter- und Oberschenkels mit vorhandenem FußOBSOLET: Femorofibulare interkalartransverse Meromelie, unilateral
esOBSOLETO: Ausencia congénita unilateral del muslo y de la parte inferior de la pierna con presencia del pieOBSOLETO: Meromelia transversal intercalar unilateral de fémur-tibia-peroné
itOBSOLETO: Assenza congenita della coscia e della gamba con piede presente, unilateraleOBSOLETO: Meromelia femoro-tibio-fibulare trasversale intercalare unilaterale
nlOBSOLEET: Congenitale afwezigheid van dij en onderbeen met voet aanwezig, unilateraalOBSOLEET: Femorotibiofibulaire intercalaire transversale meromelie, unilateraal
ptOBSOLETO: Ausência congénita da coxa e perna, com pé presente, unilateralOBSOLETO: Meromelia intercalar transversa femoro-tibio-peronial, unilateral
plNIEAKTUALNE: Wrodzony brak uda i podudzia z zachowaniem stopy, jednostronny= en
csNEAKTUÁLNÍ: Unilaterální vrozená absence stehen a lýtek s přítomností chodidlaNEAKTUÁLNÍ: Unilaterální femorotibiofibulární interkalární transverzální meromelie
ukЗАСТАРІЛО: Вроджена відсутність стегна та гомілки при наявності стопи, односторонняЗАСТАРІЛО: Стегново-великогомілкова інтеркалярна поперечна меромелія, однобічна
zh弃用:单侧先天性大腿和小腿缺失并有脚单侧股胫腓骨干横贯残肢畸形
trEski adı: Ayak mevcutken uyluk ve alt bacak doğumsal yokluğu, unilateralFemorotibiofibular interkalar transvers meromeli, unilateral
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

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Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

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Prevalence and incidence

0 records

No 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