ORPHA:3271

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Synonyms: Buntinx-Lormans-Martin syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Radio-ulnar synostosis-retinal pigment abnormalities syndrome	Buntinx-Lormans-Martin syndrome
fr	Syndrome de synostose radio-cubitale-rétinite pigmentaire	Syndrome de Buntinx-Lormans-Martin
de	Radioulnare Synostose - Retinapigmentanomalien	Buntinx-Lormans-Martin-Syndrom
es	Síndrome de sinostosis radiocubital-anomalías del pigmento retiniano
it	Sinostosi radiocubitale - retinite pigmentosa	Sindrome di Buntinx-Lormans-Martin
nl	Radio-ulnaire synostose - retinale pigmentafwijkingen-syndroom	Syndroom van Buntinx-Lormans-Martin
pt	Síndrome de sinostose radio-cubital-anomalias do pigmento da retina	Síndrome Buntinx-Lormans-Martin
pl	Synostoza promieniowo-łokciowa - zaburzenia barwnikowe siatkówki	Zespół Buntinx, Lormansa i Martina
cs	Syndrom zahrnující radioulnární synostózu a abnormality sítnicového pigmentu	Buntinxův-Lormansův-Martinův syndrom · Buntinx-Lormans-Martinův syndrom
uk	Синдром радіоульнарного синостозу - аномалії пігменту сітківки	Синдром Бантинкса-Лорманса-Мартіна
zh	桡-尺骨融合-视网膜色素异常综合征	Buntinx-Lormans-Martin 综合征
tr	Radio-ulnar sinostoz-retina pigment anormallikleri sendromu	Buntinx-Lormans-Martin sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MeSH	C536270	E		validated
UMLS	C2931149	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Not placed in any Orphanet classification in this release.

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.