Multiple congenital malformations, not elsewhere classified

Preferred Label : Multiple congenital malformations, not elsewhere classified;

Inclusion CIM-10 : Multiple congenital deformities NOS; Multiple congenital anomalies NOS;

ICD-10 exclusion note : congenital malformation syndromes affecting multiple systems (Q87.-);

Imprécision du diag : 1;

Diag associé à un acte (%) : 77.9;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q897;

UMLS CUI

C0495643;

Automatic exact mappings (from CISMeF team)
- Anomaly congenital multiple (NOS) [MedDRA LLT]
- Multiple developmental anomalies or syndromes [Bloc CIM-11]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
ICD-10 exclusion(s)
- Other specified congenital malformation syndromes affecting multiple systems [ICD-10 category]
Manual NTBT mappings (CISMeF)
- 3M syndrome [ORDO Disease]
- 49,XYYYY syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- Aase-Smith syndrome [ORDO Disease]
- Abruzzo-Erickson syndrome [ORDO Disease]
- Absent tibia-polydactyly-arachnoid cyst syndrome [ORDO Disease]
- Acro-renal-mandibular syndrome [ORDO Disease]
- Acro-renal-ocular syndrome [ORDO Disease]
- Acrocraniofacial dysostosis [ORDO Disease]
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
- Acrorenal syndrome [ORDO Disease]
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- Anonychia-microcephaly syndrome [ORDO Disease]
- Anophthalmia plus syndrome [ORDO Disease]
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome [ORDO Disease]
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome [ORDO Disease]
- Auriculoocular anomalies-cleft lip syndrome [ORDO Disease]
- Autosomal dominant prognathism [ORDO Disease]
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- BNAR syndrome [ORDO Disease]
- Barber-Say syndrome [ORDO Disease]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- Bencze syndrome [ORDO Disease]
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
- Blepharofacioskeletal syndrome [ORDO Disease]
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome [ORDO Disease]
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
- Braddock syndrome [ORDO Disease]
- Branchiootic syndrome [ORDO Disease]
- Burn-McKeown syndrome [ORDO Disease]
- CODAS syndrome [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 1 [ORDO Disease]
- Camptodactyly syndrome, Guadalajara type 2 [ORDO Disease]
- Cataract-aberrant oral frenula-growth delay syndrome [ORDO Disease]
- Charlie M syndrome [ORDO Disease]
- Cleft lip-retinopathy syndrome [ORDO Disease]
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome [ORDO Disease]
- Cleft palate-lateral synechia syndrome [ORDO Disease]
- Cole-Carpenter syndrome [ORDO Disease]
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
- Cooper-Jabs syndrome [ORDO Disease]
- Craniofacial-deafness-hand syndrome [ORDO Disease]
- Craniolenticulosutural dysplasia [ORDO Disease]
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome [ORDO Disease]
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome [ORDO Disease]
- Cyprus facial-neuromusculoskeletal syndrome [ORDO Disease]
- Czeizel-Losonci syndrome [ORDO Disease]
- Dahlberg-Borer-Newcomer syndrome [ORDO Disease]
- Dermato-cardio-skeletal syndrome, Borrone type [ORDO Disease]
- Developmental malformations-deafness-dystonia syndrome [ORDO Disease]
- Dislocation of the hip-dysmorphism syndrome [ORDO Disease]
- Distal arthrogryposis type 1 [ORDO Disease]
- Donnai-Barrow syndrome [ORDO Disease]
- Ectrodactyly-cleft palate syndrome [ORDO Disease]
- Femoral-facial syndrome [ORDO Disease]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fibulo-ulnar hypoplasia-renal anomalies syndrome [ORDO Disease]
- Frontofacionasal dysplasia [ORDO Disease]
- Furlong syndrome [ORDO Disease]
- Genitopalatocardiac syndrome [ORDO Disease]
- Gingival fibromatosis-facial dysmorphism syndrome [ORDO Disease]
- Gordon syndrome [ORDO Disease]
- Grange syndrome [ORDO Disease]
- Growth deficiency-brachydactyly-dysmorphism syndrome [ORDO Disease]
- Hand-foot-genital syndrome [ORDO Disease]
- Heart defect-tongue hamartoma-polysyndactyly syndrome [ORDO Disease]
- Heart defects-limb shortening syndrome [ORDO Disease]
- Heart-hand syndrome type 2 [ORDO Disease]
- Heart-hand syndrome type 3 [ORDO Disease]
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
- Holzgreve syndrome [ORDO Disease]
- Hydrocephaly-tall stature-joint laxity syndrome [ORDO Disease]
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
- Hypertrichosis-acromegaloid facial appearance syndrome [ORDO Disease]
- Hypopituitarism-micropenis-cleft lip/palate syndrome [ORDO Disease]
- Ichthyosis-oral and digital anomalies syndrome [ORDO Disease]
- Juberg-Hayward syndrome [ORDO Disease]
- LIG4 syndrome [ORDO Disease]
- LUMBAR syndrome [ORDO Disease]
- Lethal congenital contracture syndrome type 1 [ORDO Disease]
- Lethal congenital contracture syndrome type 2 [ORDO Disease]
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
- Lewis-Pashayan syndrome [ORDO Disease]
- Lymphedema-cleft palate syndrome [ORDO Disease]
- Macrosomia-microphthalmia-cleft palate syndrome [ORDO Disease]
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome [ORDO Disease]
- Mandibuloacral dysplasia [ORDO Disease]
- Matthew-Wood syndrome [ORDO Disease]
- Maxillonasal dysplasia [ORDO Disease]
- Median nodule of the upper lip [ORDO Disease]
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome [ORDO Disease]
- Microcephaly-albinism-digital anomalies syndrome [ORDO Disease]
- Microcephaly-cardiac defect-lung malsegmentation syndrome [ORDO Disease]
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type [ORDO Disease]
- Microgastria-limb reduction defect syndrome [ORDO Disease]
- Multinodular goiter-cystic kidney-polydactyly syndrome [ORDO Disease]
- Müllerian duct anomalies-limb anomalies syndrome [ORDO Disease]
- Nager syndrome [ORDO Disease]
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
- Nephrosis-deafness-urinary tract-digital malformations syndrome [ORDO Disease]
- Night blindness-skeletal anomalies-dysmorphism syndrome [ORDO Disease]
- Oculo-oto-facial dysplasia [ORDO Disease]
- PAGOD syndrome [ORDO Disease]
- PARC syndrome [ORDO Disease]
- PHAVER syndrome [ORDO Disease]
- Pai syndrome [ORDO Disease]
- Pentalogy of Cantrell [ORDO Disease]
- Polysyndactyly-cardiac malformation syndrome [ORDO Disease]
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome [ORDO Disease]
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency [ORDO Disease]
- Progressive non-infectious anterior vertebral fusion [ORDO Disease]
- Pyramidal molars-abnormal upper lip syndrome [ORDO Disease]
- RAPADILINO syndrome [ORDO Disease]
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome [ORDO Disease]
- Renal dysplasia-megalocystis-sirenomelia syndrome [ORDO Disease]
- Renal-genital-middle ear anomalies [ORDO Disease]
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Richieri Costa-da Silva syndrome [ORDO Disease]
- Robinow-Sorauf syndrome [ORDO Disease]
- SHORT syndrome [ORDO Disease]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- Scalp-ear-nipple syndrome [ORDO Disease]
- Schilbach-Rott syndrome [ORDO Disease]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
- Syndactyly-telecanthus-anogenital and renal malformations syndrome [ORDO Disease]
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
- Thomas syndrome [ORDO Disease]
- Thymic-renal-anal-lung dysplasia [ORDO Disease]
- Torg-Winchester syndrome [ORDO Disease]
- Townes-Brocks syndrome [ORDO Disease]
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
- VACTERL/VATER association [ORDO Disease]
- Van den Ende-Gupta syndrome [ORDO Disease]
- Velo-facial-skeletal syndrome [ORDO Disease]
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome [ORDO Disease]
- Verloove Vanhorick-Brubakk syndrome [ORDO Disease]
- Vici syndrome [ORDO Disease]
- Von Voss-Cherstvoy syndrome [ORDO Disease]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- White forelock with malformations [ORDO Disease]
Orphanet concepts
- Arthrogryposis-renal dysfunction-cholestasis syndrome [ORDO Disease]
- Pentalogy of Cantrell [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- Deafness-craniofacial syndrome [ORDO Disease]
- Gorlin-Chaudhry-Moss syndrome [ORDO Disease]
- Keipert syndrome [ORDO Disease]
- Oculoauriculovertebral spectrum with radial defects [ORDO Disease]

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