Afwijking, multipele - CISMeF

CISMeF

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Afwijking, multipeleDescripteur MeSH

Voorkeurslabel : Afwijking, multipele;

Details

Oorsprong id

D000015;

UMLS CUI

C0000772;

Manual BTNT mappings - CISMeF
- 3M-syndroom [ORDO Disease]
- 49,XYYYY-syndroom [ORDO Disease]
- 8q22.1-microdeletiesyndroom [ORDO Disease]
- Acro-renaal-mandibulair syndroom [ORDO Disease]
- Acro-renaal-oculair syndroom [ORDO Disease]
- Acrocraniofaciale dysostose [ORDO Disease]
- Acrorenaal syndroom [ORDO Disease]
- Afwezige tibia - polydactylie - arachnoïdale cyste-syndroom [ORDO Disease]
- Anoftalmie - megalocornea - cardiopathie - skeletale anomalieën-syndroom [ORDO Disease]
- Anoftalmie plus-syndroom [ORDO Disease]
- Anomalieën van gang van Müller - ledemaatanomalieën-syndroom [ORDO Disease]
- Anonychie - microcefalie-syndroom [ORDO Disease]
- Arrhinie - choane atresie - microftalmie-syndroom [ORDO Disease]
- Atrioventriculair defect - blefarofimosis - radiaal en anaal defect-syndroom [ORDO Disease]
- Auriculaire abnormaliteiten - gespleten lip met of zonder gespleten verhemelte - oculaire abnormaliteiten [ORDO Disease]
- Autosomaal dominante prognathie [ORDO Disease]
- Autosomaal recessief faciodigitogenitaal syndroom [ORDO Disease]
- Autosomaal recessief multipele pterygium-syndroom [ORDO Disease]
- BNAR-syndroom [ORDO Disease]
- Blefaro-cheilo-odontisch syndroom [ORDO Disease]
- Blefarofimose - ptose - esotropie - syndactylie - kleine gestalte-syndroom [ORDO Disease]
- Brachytelefalangie - dysmorfie - syndroom van Kallmann-syndroom [ORDO Disease]
- Branchio-otisch syndroom [ORDO Disease]
- CODAS-syndroom [ORDO Disease]
- Camptodactyliesyndroom, Guadalajara-type 1 [ORDO Disease]
- Camptodactyliesyndroom, Guadalajara-type 2 [ORDO Disease]
- Cataract - afwijkend oraal frenulum - groeiachterstand-syndroom [ORDO Disease]
- Cranio-lenticulo-suturale dysplasie [ORDO Disease]
- Craniofaciaal - doofheid - hand-syndroom [ORDO Disease]
- Cryptomicrotie - brachydactylie - excessieve vingertopboog-syndroom [ORDO Disease]
- Cutis gyrata - acanthosis nigricans - craniosynostose-syndroom [ORDO Disease]
- Cyprus faciaal-neuromusculoskeletaal syndroom [ORDO Disease]
- Distale artrogrypose type 1 [ORDO Disease]
- Doofheid-craniofaciaal syndroom [ORDO Disease]
- Dysplasie van thymus-nier-anus-long [ORDO Disease]
- Femoraal-faciaal syndroom [ORDO Disease]
- Fibulo-ulnaire hypoplasie - nieranomalieën-syndroom [ORDO Disease]
- Foetale akinesie - deformatie-sequentie [ORDO Disease]
- Fronto-facio-nasale dysplasie [ORDO Disease]
- Genitopalatocardiaal syndroom [ORDO Disease]
- Gespleten lip - retinopathie-syndroom [ORDO Disease]
- Gespleten lip/verhemelte - intestinale malrotatie - cardiopathie-syndroom [ORDO Disease]
- Gespleten verhemelte - laterale synechie-syndroom [ORDO Disease]
- Gingivale fibromatose - faciale dysmorfie-syndroom [ORDO Disease]
- Hand-voet-genitaal syndroom [ORDO Disease]
- Hart-handsyndroom type 2 [ORDO Disease]
- Hart-handsyndroom type 3 [ORDO Disease]
- Hartdefect - tonghamartoom - polysyndactylie-syndroom [ORDO Disease]
- Hartdefecten - verkorte ledematen-syndroom [ORDO Disease]
- Heupluxatie - dysmorfie-syndroom [ORDO Disease]
- Hydrocefalie - grote gestalte - gewrichtslaxiteit-syndroom [ORDO Disease]
- Hypertelorisme - hypospadie - polysyndactylie-syndroom [ORDO Disease]
- Hypertrichose - acromegaloïd aangezicht-syndroom [ORDO Disease]
- Hypoplasie van kraakbeen van neusvleugel - coloboom - telecanthus-syndroom [ORDO Disease]
- Hypoplasie van radius - trifalangeale duimen - hypospadie - maxillair diasteem-syndroom [ORDO Disease]
- Ichthyosis - orale en digitale anomalieën-syndroom [ORDO Disease]
- Juberg-Haywardsyndroom [ORDO Disease]
- Kleine gestalte - craniofaciale anomalieën - genitale hypoplasie-syndroom [ORDO Disease]
- Korte tarsus - afwezigheid van onderste wimpers-syndroom [ORDO Disease]
- LIG4-syndroom [ORDO Disease]
- LUMBAR-syndroom [ORDO Disease]
- Letale congenitale contracturen-syndroom type 1 [ORDO Disease]
- Letale congenitale contracturen-syndroom type 2 [ORDO Disease]
- Letale congenitale contracturen-syndroom type 3 [ORDO Disease]
- Macrosomie - microftalmie - gespleten verhemelte-syndroom [ORDO Disease]
- Macrostomie - preauriculaire aanhangsels - externe oftalmoplegie-syndroom [ORDO Disease]
- Mandibuloacrale dysplasie [ORDO Disease]
- Maxillonasale dysplasie [ORDO Disease]
- Mediane nodulus van bovenlip [ORDO Disease]
- Mesomele dwerggroei - gespleten verhemelte - camptodactylie-syndroom [ORDO Disease]
- Microcefalie - albinisme - digitale anomalieën-syndroom [ORDO Disease]
- Microcefalie - faciocardioskeletaal syndroom, Hadziselimovic-type [ORDO Disease]
- Microcefalie - hartdefect - longmalsegmentatie-syndroom [ORDO Disease]
- Microgastrie - reductiedefect van ledemaat-syndroom [ORDO Disease]
- Multinodulair struma - cystische nier - polydactylie-syndroom [ORDO Disease]
- Nachtblindheid - skeletale anomalieën - dysmorfie-syndroom [ORDO Disease]
- Nasopalpebraal lipoom - coloboom-syndroom [ORDO Disease]
- Nefrose - doofheid - urineweg - digitale misvormingen-syndroom [ORDO Disease]
- Oculo-auriculo-vertebraal spectrum met radiale defecten [ORDO Disease]
- Ontwikkelingsdefecten - doofheid - dystonie-syndroom [ORDO Disease]
- PAGOD-syndroom [ORDO Disease]
- PARC-syndroom [ORDO Disease]
- PHAVER-syndroom [ORDO Disease]
- Pentalogie van Cantrell [ORDO Disease]
- Piramidale molaren - abnormale bovenlip-syndroom [ORDO Disease]
- Polysyndactylie - hartmalformatie-syndroom [ORDO Disease]
- Posterieure fusie van lumbosacrale wervels - blefaroptose-syndroom [ORDO Disease]
- Primaire immuundeficiëntiesyndroom door LAMTOR2-deficiëntie [ORDO Disease]
- Progressieve niet-infectieuze anterieure vertebrale fusie [ORDO Disease]
- RAPADILINO-syndroom [ORDO Disease]
- SHORT-syndroom [ORDO Disease]
- SPECC1L-gerelateerd hypertelorisme-syndroom [ORDO Disease]
- Scalp - oor - tepel-syndroom [ORDO Disease]
- Syndactylie - telecanthus - anogenitale en renale malformaties-syndroom [ORDO Disease]
- Syndroom van Aase-Smith [ORDO Disease]
- Syndroom van Abruzzo-Erickson [ORDO Disease]
- Syndroom van Barber-Say [ORDO Disease]
- Syndroom van Beemer-Ertbruggen [ORDO Disease]
- Syndroom van Bencze [ORDO Disease]
- Syndroom van Braddock [ORDO Disease]
- Syndroom van Burn-McKeown [ORDO Disease]
- Syndroom van Charlie M [ORDO Disease]
- Syndroom van Cole-Carpenter [ORDO Disease]
- Syndroom van Cooper-Jabs [ORDO Disease]
- Syndroom van Czeizel-Losonci [ORDO Disease]
- Syndroom van Dahlberg-Borer-Newcomer [ORDO Disease]
- Syndroom van Donnai-Barrow [ORDO Disease]
- Syndroom van Gordon [ORDO Disease]
- Syndroom van Gorlin-Chaudhry-Moss [ORDO Disease]
- Syndroom van Grange [ORDO Disease]
- Syndroom van Holzgreve [ORDO Disease]
- Syndroom van Keipert [ORDO Disease]
- Syndroom van Matthew-Wood [ORDO Disease]
- Syndroom van Nager [ORDO Disease]
- Syndroom van Pai [ORDO Disease]
- Syndroom van Richieri Costa-Pereira [ORDO Disease]
- Syndroom van Richieri Costa-da Silva [ORDO Disease]
- Syndroom van Schilbach-Rott [ORDO Disease]
- Syndroom van Thomas [ORDO Disease]
- Syndroom van Townes-Brocks [ORDO Disease]
- Syndroom van Van den Ende-Gupta [ORDO Disease]
- Syndroom van Verloove-Vanhorick-Brubakk [ORDO Disease]
- Syndroom van Vici [ORDO Disease]
- Syndroom van Waardenburg type 1 [ORDO Disease]
- Syndroom van Waardenburg type 2 [ORDO Disease]
- Syndroom van Weissenbacher- Zweymuller [ORDO Disease]
- Syndroom van von Voss-Cherstvoy [ORDO Disease]
- Tetra-amelie - multipele malformaties-syndroom [ORDO Disease]
- Torg-Winchestersyndroom [ORDO Disease]
- Trigonocefalie - gespleten neus - acrale anomalieën-syndroom [ORDO Disease]
- VACTERL/VATER-associatie [ORDO Disease]
- Velo-faciaal-skeletaal syndroom [ORDO Disease]
- Ventriculaire extrasystolen met syncopale episodes - perodactylie - Robin sequentie-syndroom [ORDO Disease]
- Witte voorhoofdslok met misvormingen [ORDO Disease]
- Ziekte van Hirschsprung - brachydactylie type D-syndroom [ORDO Disease]
- Ziekte van Hirschsprung - doofheid - polydactylie-syndroom [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetische meervoudige congenitale anomalieën/dysmorfiesyndroom [ORDO Disease]
- Meervoudige congenitale anomalieën/dysmorfiesyndroom [ORDO Disease]
See also
- Idiotie [MeSH Descriptor]
UMLS correspondences (same concept)
- Multipele aangeboren afwijkingen/aangeboren afwijking nao [ICPC-2 Rubric]
- congenitale multipele anomalie (NAO) [MedDRA LLT]
- congenitale multipele anomalieën [MedDRA LLT]
- multipele afwijkingen, congenitaal [MedDRA Preferred Term]
- multipele congenitale anomalieën [MedDRA LLT]
- multipele congenitale misvormingen [MedDRA LLT]
- multipele misvormingen [MedDRA LLT]

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15/06/2025

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