Multiple malformation syndrome with limb defect as major feature

Code	`41443008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

77143900914q22q23 microdeletion syndrome disorder

7252890095-amino-4-imidazole carboxamide ribosiduria disorder

720464003ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome disorder

716099003Absence deformity of leg and congenital cataract syndrome disorder

771264005Absent radius, anogenital anomalies syndrome disorder

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

733068001Absent tibia, polydactyly, arachnoid cyst syndrome disorder

890221004Acrocardiofacial syndrome disorder

268262006Acrocephalosyndactyly disorder

720412009Acropectoral syndrome disorder

720457000Acropectorovertebral dysplasia disorder

720458005Acrorenal syndrome disorder

720415006Acrorenoocular syndrome disorder

34748004Adams-Oliver syndrome disorder

720984008Angel-shaped phalangoepiphyseal dysplasia disorder

720467005Aniridia and absent patella syndrome disorder

784351000Antecubital pterygium syndrome disorder

720498007Aphalangy and syndactyly with microcephaly syndrome disorder

733118006Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome disorder

773583007Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome disorder

763066009Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome disorder

1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome disorder

722298001Ballard syndrome disorder

733093004Banki syndrome disorder

732956000Brachydactyly and distal symphalangism syndrome disorder

732957009Brachydactyly and preaxial hallux varus syndrome disorder

17608003CHILD syndrome disorder

720599002Campomelia Cumming type disorder

733045005Camptobrachydactyly disorder

720601000Camptodactyly and tall stature with scoliosis and hearing loss syndrome disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

733466005Camptodactyly taurinuria syndrome disorder

720815000Capra DeMarco syndrome disorder

766881008Carney complex, trismus, pseudocamptodactyly syndrome disorder

722383001Catel Manzke syndrome disorder

726621009Caudal appendage deafness syndrome disorder

720633009Cenani Lenz syndrome disorder

717785002Coloboma of macula with brachydactyly type B syndrome disorder

733030003Congenital hypoplasia of ulna and split foot syndrome disorder

721880009Congenital microgastria with limb reduction defect syndrome disorder

766874001Cono-spondylar dysplasia disorder

720747002Cooks syndrome disorder

720818003Craniosynostosis Philadelphia type disorder

732250002Craniosynostosis fibular aplasia syndrome disorder

725096002Cryptomicrotia brachydactyly syndrome disorder

720819006Curry Jones syndrome disorder

719021005DK phocomelia syndrome disorder

733094005Dandy-Walker malformation with postaxial polydactyly syndrome disorder

1208338004Dysraphism, cleft lip and palate, limb reduction defect syndrome disorder

1340173008EN1-related dorsoventral syndrome disorder

771335004Ectodermal dysplasia syndactyly syndrome disorder

720856002Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome disorder

771177009Ectrodactyly polydactyly syndrome disorder

80773006Escobar syndrome disorder

783774006External auditory canal atresia, vertical talus, hypertelorism syndrome disorder

774070008FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome disorder

715474004Fibular aplasia and complex brachydactyly disorder

720952001Fibular aplasia and ectrodactyly syndrome disorder

783156008Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome disorder

720953006Fibular dimelia diplopodia syndrome disorder

782758009Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome disorder

721296004Fuhrmann syndrome disorder

77542002Grebe syndrome disorder

722452004Guttmacher syndrome disorder

771180005Hallux varus, preaxial polysyndactyly syndrome disorder

702425002Hand-foot-genital syndrome disorder

766032007Hartsfield syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

783738002Heart defect, tongue hamartoma, polysyndactyly syndrome disorder

721014007Heart-hand syndrome Slovenian type disorder

721010003Heart-hand syndrome type 2 disorder

721013001Heart-hand syndrome type 3 disorder

721221000Hirschsprung disease with deafness and polydactyly syndrome disorder

721222007Hirschsprung disease with type D brachydactyly syndrome disorder

19092004Holt-Oram syndrome disorder

783551005Ichthyosis, short stature, brachydactyly, microspherophakia syndrome disorder

763743003Intellectual disability, spasticity, ectrodactyly syndrome disorder

722032005Karsch Neugebauer syndrome disorder

716996008L1 syndrome disorder

23817003Levy-Hollister syndrome disorder

716106000Limb body wall complex disorder

68551007Limb reduction-ichthyosis syndrome disorder

733454004Long thumb brachydactyly syndrome disorder

770561007Lower limb malformation hypospadias syndrome disorder

721976003Lung agenesis with heart defect and thumb anomaly syndrome disorder

722463001Macular coloboma, cleft palate, hallux valgus syndrome disorder

718679004Mammary digital nail syndrome disorder

719397009Mesomelic dysplasia Kantaputra type disorder

715652002Mesomelic dysplasia Savarirayan type disorder

1363286000Mesomelic dysplasia, digital anomalies, intellectual disability syndrome disorder

715440003Mirror hands and feet co-occurrent with nasal defect disorder

715523005Mirror polydactyly, vertebral segmentation and limb defect syndrome disorder

723409007Multinodular goitre, cystic kidney, polydactyly syndrome disorder

23359005Multiple malformation syndrome with facial-limb defects as major feature disorder

33979003Nievergelt's syndrome disorder

722019000Oculootoradial syndrome disorder

239028001Odontotrichomelic syndrome disorder

721017000Oliver syndrome disorder

703403003Ophthalmo-acromelic syndrome disorder

733064004Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome disorder

723453002PHAVER syndrome disorder

721970009Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome disorder

38371006Poland anomaly disorder

733087007Polydactyly myopia syndrome disorder

770679002Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome disorder

66783006Popliteal pterygium syndrome disorder

773279006Postaxial polydactyly, dental, vertebral anomalies syndrome disorder

733088002Preaxial polydactyly, colobomata, intellectual disability syndrome disorder

702413000RAPADILINO syndrome disorder

85589009Radial aplasia-thrombocytopenia syndrome disorder

783137003Radial deficiency, tibial hypoplasia syndrome disorder

766765009Radio-renal syndrome disorder

719162001Radioulnar synostosis with microcephaly and scoliosis syndrome disorder

715505002Rhizomelic dysplasia Patterson Lowry type disorder

723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder

721069005Short fifth metacarpal insulin resistance syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

732927000Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome disorder

723611008Split hand, split foot malformation with sensorineural hearing loss syndrome disorder

1172635005Split-foot malformation, mesoaxial polydactyly syndrome disorder

716231009Spondylocamptodactyly syndrome disorder

719305006Stapes ankylosis with broad thumb and toe syndrome disorder

1187132007Sugarman brachydactyly disorder

732955001Symphalangism with multiple anomalies of hands and feet syndrome disorder

783553008Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome disorder

783562005Syndactyly, nystagmus syndrome due to 2q31.1 microduplication disorder

783700001Syndactyly, polydactyly, ear lobe syndrome disorder

725140007Temple Baraitser syndrome disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

783003009Thoracomelic dysplasia disorder

771182002Thumb deformity, alopecia, pigmentation anomaly syndrome disorder

733117001Thumb stiffness, brachydactyly, intellectual disability syndrome disorder

764857004Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome disorder

699256006Timothy syndrome type 1 disorder

733456002Triphalangeal thumb and dislocation of patella syndrome disorder

719950001Triphalangeal thumb and polysyndactyly syndrome disorder

716110002Upper limb defect with eye and ear abnormalities syndrome disorder

716334004Urban Rogers Meyer syndrome disorder

719019000WT limb blood syndrome disorder

237918004Waardenburg syndrome type 3 disorder

763462004X-linked lethal multiple pterygium syndrome disorder

Multiple malformation syndrome with limb defect as major feature

Parents (1)

Children (141)