Termine preferito : Anomalie multiple;

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Consultare qui sotto una selezione delle risorse principali:

You can consult :


https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/panel-des-syndromes-polymalformatifs-par-sequencage-de-nouvelle-generation.html
2025
Anomalie multiple
Caratteristiche familiari
Analisi di sequenze

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https://www.has-sante.fr/jcms/p_3350160/fr/syndrome-de-white-sutton
2022
false
false
false
Sindrome di White-Sutton
Ritardi nello sviluppo
Anomalie multiple
Continuità di cura del paziente
Educazione del paziente (come argomento)
Sindrome di White-Sutton
Malattia cronica
Nevo con alone

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https://papyrus.bib.umontreal.ca/xmlui/handle/1866/24858
2020
Gravidanza multipla
Anomalie multiple
Assistenza medica

---
https://www.cochrane.org/fr/CD013132/EPILEPSY_traitement-pharmacologique-du-syndrome-des-pointes-ondes-continues-pendant-le-sommeil-lent-et-le
2020
Sindrome di Landau-Kleffner
Terapia farmacologica
Farmacologia
Anomalie multiple
Disturbi della condotta alimentare
Malattie delle ossa in età evolutiva
Deformità congenite degli arti
Anomalie craniofacciali

---
https://www.has-sante.fr/jcms/p_3226217/fr/syndrome-kbg
2020
false
false
false
Gestione della cura del paziente
Gestione del caso clinico
Continuità di cura del paziente
Percorsi critici
Segni e sintomi
Diagnosi differenziale
Co-morbidità
Prognosi
Educazione del paziente (come argomento)
Testing genetico
Counseling genetico
Gravidanza
Diagnosi prenatale
Malattia cronica
Anomalie multiple
Malattie delle ossa in età evolutiva
Ritardo mentale
Anomalie dei denti
Facies
Anomalie multiple
Malattie delle ossa in età evolutiva
Ritardo mentale
Anomalie dei denti
Facies
Anomalie multiple
Malattie delle ossa in età evolutiva
Ritardo mentale
Anomalie dei denti
Facies
Anomalie multiple
Malattie delle ossa in età evolutiva
Ritardo mentale
Anomalie dei denti
Facies

---
https://www.cadth.ca/fr/tests-de-la-troponine-au-point-de-service-pour-les-patients-ayant-des-symptomes-suggerant-un
2016
false
false
false
Sindrome
Troponina
Pazienti
Sindrome coronarica acuta
Anomalie multiple
Disturbi della condotta alimentare
Malattie delle ossa in età evolutiva
Deformità congenite degli arti
Anomalie craniofacciali

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=83628
false
true
false
Anomalie multiple
Sindrome PELVIS
Emangioma
Anomalie multiple
Anomalie urogenitali
Perineo

---
http://www.aboutkidshealth.ca/Fr/HealthAZ/ConditionsandDiseases/Dermatology/Pages/keratosis-pilaris.aspx
2015
false
false
false
Malattia di Darier
Sopracciglia
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3121
2015
false
Anomalie multiple
Nanismo
Osteocondrite
Facies
Ossa del metacarpo

---
http://anomaliescervelet.aphp.fr/
false
false
false
Malattie cerebellari
Cervelletto
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2475
2014
false
true
false
Cocaina
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3246
2014
false
true
false
Mano
Sindrome
Anomalie multiple
Piede

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1780
false
true
false
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3262
2014
false
true
false
Sindrome
Anomalie multiple

---
http://admsl.free.fr/
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=272092
Anomalie multiple
Labioschisi
Palatoschisi
Lussazioni
Osteocondrodisplasie
Anomalie dei denti
Anomalie craniofacciali

---
http://www.maladie-rare-sci.com/
false
Anomalie multiple

---
http://www.smithmagenis.com/
Anomalie multiple
Delezione del cromosoma
Ritardo mentale

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93267
2011
Anomalie multiple
Cranio

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=210144
2011
Sindrome
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=166277
2011
Scheletro
Fratture ossee
Anomalie multiple
Malattie delle ossa in età evolutiva
Sindrome

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=166002
2011
Anomalie multiple
Collagene
Osteocondrodisplasie

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=251019
2011
false
true
false
Lattante
Delezione del cromosoma
Ritardo mentale
Anomalie multiple
Sindrome da microdelezione 2q32q33
Cromosomi umani, coppia 2
Bambino

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=251014
2011
false
true
false
Lattante
Sindrome da microdelezione 2q31.1
Cromosomi umani, coppia 2
Ritardi nello sviluppo
Anomalie multiple
Anomalie craniofacciali
Disturbi della crescita
Delezione del cromosoma
Bambino

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=254519
2011
Geni vif
Espressione genica
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=140874
2011
false
true
false
Sindrome di Joubert e sindromi correlate
Bambino
Lattante
Ritardi nello sviluppo
Disturbi della motilità oculare
Malattie cerebellari
Atassia
Ritardo mentale
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3473
2011
false
true
false
Deformità congenite della mano
Anomalie multiple
Bambino
Lattante
Fibromatosi gengivale
Anomalie craniofacciali

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1727
2011
false
true
false
Cromosomi umani, coppia 22
Bambino
Trisomia
Anomalie multiple
Sindrome di DiGeorge
duplicazione cromosomica

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1120
2011
false
true
false
Sindrome agenesia polmonare-cardiopatia-anomalie del pollice
Anomalie multiple
Polmone
Pollice

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=231720
2011
Ipopituitarismo
Anomalie multiple
Colon

---
https://anpgm.fr/media/documents/ANPGM_057_Polymicrogyrie_Perisylvienne_Bilaterale_SRPX2.doc
2009
polimicrogiria
Anomalie multiple
Ritardo mentale
Malformazioni dello sviluppo corticale

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=42775
2007
Anomalie multiple
Segni e sintomi
Malattie rare

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2062
2007
false
true
false
Fusione vertebrale progressiva non infettiva
Anomalie multiple
Bambino

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85201
2006
Rotula
Scroto
Faccia
Ritardo mentale
Rene
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2068
2006
Malattie rare
Segni e sintomi
Anomalie multiple
Trombocitopenia

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1532
2006
true
Anomalie multiple
Alopecia
Cervelletto
Disturbi della crescita
Anomalie craniofacciali
Sindromi neurocutanee
Rombencefalo

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2286
2006
Incisivo
Anomalie multiple
Anodontia

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2713
2006
Anomalie multiple
Tessuto osseo e ossa
Anomalie della pelle
Anomalie dell'occhio

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=75857
2006
Delezione del cromosoma
Anomalie multiple

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1529
2005
false
true
false
Anomalie craniofacciali
Anomalie multiple
Ipoacusia neurosensoriale
Lattante

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2019
2005
false
true
false
Femore
Fibula
Anomalie multiple
Ulna
Lattante
Bambino

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3469
2005
false
true
false
Bambino
Lattante
Anomalie multiple
Anencefalia

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=7
2005
true
Anomalie multiple
Sindrome di Dandy-Walker
Difetti del setto cardiaco atriale
Anomalie craniofacciali

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2842
2005
true
Anomalie multiple
Pene
Scroto
Malattie dell'uretra

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2021
2005
false
Anomalie multiple
Nanismo
Facies

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=139
2004
false
true
false
Anomalie multiple
Bambino
Lattante
Deformità congenite degli arti
Malattie genetiche associate al cromosoma X
Eritroderma ittiosiforme

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1406
2004
false
true
false
Anomalie multiple
Sindrome Charlie M
Lattante

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15/05/2025


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