Multiple malformation syndrome with limb defect as major feature   41443008

SNOMED CT code


SNOMED code41443008
nameMultiple malformation syndrome with limb defect as major feature
statusactive
date introduced2002-01-31
fully specified name(s)Multiple malformation syndrome with limb defect as major feature (disorder)
synonymsMultiple malformation syndrome with limb defect as major feature
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parentsMultiple system malformation syndrome   82354003
children
  • 14q22q23 microdeletion syndrome   771439009
  • 5-amino-4-imidazole carboxamide ribosiduria   725289009
  • Absence deformity of leg and congenital cataract syndrome   716099003
  • Absent radius, anogenital anomalies syndrome   771264005
  • Absent thumb with short stature and immunodeficiency syndrome   719685004
  • Absent tibia, polydactyly, arachnoid cyst syndrome   733068001
  • Acrocardiofacial syndrome   890221004
  • Acrocephalosyndactyly   268262006
  • Acropectoral syndrome   720412009
  • Acropectorovertebral dysplasia   720457000
  • Acrorenal syndrome   720458005
  • Acrorenoocular syndrome   720415006
  • Adams-Oliver syndrome   34748004
  • ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome   720464003
  • Angel-shaped phalangoepiphyseal dysplasia   720984008
  • Aniridia and absent patella syndrome   720467005
  • Antecubital pterygium syndrome   784351000
  • Aphalangy and syndactyly with microcephaly syndrome   720498007
  • Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006
  • Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome   773583007
  • Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009
  • Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome   1187115008
  • Ballard syndrome   722298001
  • Banki syndrome   733093004
  • Brachydactyly and distal symphalangism syndrome   732956000
  • Brachydactyly and preaxial hallux varus syndrome   732957009
  • Campomelia Cumming type   720599002
  • Camptobrachydactyly   733045005
  • Camptodactyly and tall stature with scoliosis and hearing loss syndrome   720601000
  • Camptodactyly syndrome Guadalajara type 2   720603002
  • Camptodactyly taurinuria syndrome   733466005
  • Capra DeMarco syndrome   720815000
  • Carney complex, trismus, pseudocamptodactyly syndrome   766881008
  • Catel Manzke syndrome   722383001
  • Caudal appendage deafness syndrome   726621009
  • Cenani Lenz syndrome   720633009
  • CHILD syndrome   17608003
  • Coloboma of macula with brachydactyly type B syndrome   717785002
  • Congenital hypoplasia of ulna and split foot syndrome   733030003
  • Congenital microgastria with limb reduction defect syndrome   721880009
  • Cono-spondylar dysplasia   766874001
  • Cooks syndrome   720747002
  • Craniosynostosis fibular aplasia syndrome   732250002
  • Craniosynostosis Philadelphia type   720818003
  • Cryptomicrotia brachydactyly syndrome   725096002
  • Curry Jones syndrome   720819006
  • Dandy-Walker malformation with postaxial polydactyly syndrome   733094005
  • DK phocomelia syndrome   719021005
  • Dysraphism, cleft lip and palate, limb reduction defect syndrome   1208338004
  • Ectodermal dysplasia syndactyly syndrome   771335004
  • Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome   720856002
  • Ectrodactyly polydactyly syndrome   771177009
  • Escobar syndrome   80773006
  • External auditory canal atresia, vertical talus, hypertelorism syndrome   783774006
  • FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome   774070008
  • Fibular aplasia and complex brachydactyly   715474004
  • Fibular aplasia and ectrodactyly syndrome   720952001
  • Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome   783156008
  • Fibular dimelia diplopodia syndrome   720953006
  • Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome   782758009
  • Fuhrmann syndrome   721296004
  • Grebe syndrome   77542002
  • Guttmacher syndrome   722452004
  • Hallux varus, preaxial polysyndactyly syndrome   771180005
  • Hand-foot-genital syndrome   702425002
  • Hartsfield syndrome   766032007
  • Heart defect and limb shortening syndrome   721009008
  • Heart defect, tongue hamartoma, polysyndactyly syndrome   783738002
  • Heart-hand syndrome Slovenian type   721014007
  • Heart-hand syndrome type 2   721010003
  • Heart-hand syndrome type 3   721013001
  • Hirschsprung disease with deafness and polydactyly syndrome   721221000
  • Hirschsprung disease with type D brachydactyly syndrome   721222007
  • Holt-Oram syndrome   19092004
  • Ichthyosis, short stature, brachydactyly, microspherophakia syndrome   783551005
  • Intellectual disability, spasticity, ectrodactyly syndrome   763743003
  • Inverse Klippel Trénaunay syndrome   1285323003
  • Karsch Neugebauer syndrome   722032005
  • L1 syndrome   716996008
  • Levy-Hollister syndrome   23817003
  • Limb body wall complex   716106000
  • Limb reduction-ichthyosis syndrome   68551007
  • Long thumb brachydactyly syndrome   733454004
  • Lower limb malformation hypospadias syndrome   770561007
  • Lung agenesis with heart defect and thumb anomaly syndrome   721976003
  • Macular coloboma, cleft palate, hallux valgus syndrome   722463001
  • Mammary digital nail syndrome   718679004
  • Mesomelic dysplasia Kantaputra type   719397009
  • Mesomelic dysplasia Savarirayan type   715652002
  • Mirror hands and feet co-occurrent with nasal defect   715440003
  • Mirror polydactyly, vertebral segmentation and limb defect syndrome   715523005
  • Multinodular goiter, cystic kidney, polydactyly syndrome   723409007
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Nievergelt's syndrome   33979003
  • Oculootoradial syndrome   722019000
  • Odontotrichomelic syndrome   239028001
  • Oliver syndrome   721017000
  • Ophthalmo-acromelic syndrome   703403003
  • Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome   733064004
  • Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome   721970009
  • PHAVER syndrome   723453002
  • Poland anomaly   38371006
  • Polydactyly myopia syndrome   733087007
  • Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome   770679002
  • Polysyndactyly syndrome   81330005  removed: 2021-01-31
  • Popliteal pterygium syndrome   66783006
  • Postaxial polydactyly, dental, vertebral anomalies syndrome   773279006
  • Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002
  • Radial aplasia-thrombocytopenia syndrome   85589009
  • Radial deficiency, tibial hypoplasia syndrome   783137003
  • Radio-renal syndrome   766765009
  • Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001
  • RAPADILINO syndrome   702413000
  • Rhizomelic dysplasia Patterson Lowry type   715505002
  • Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome   723676007
  • Short fifth metacarpal insulin resistance syndrome   721069005
  • Short stature, brachydactyly, obesity, global developmental delay syndrome   1187277001
  • Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome   732927000
  • Split hand, split foot malformation with sensorineural hearing loss syndrome   723611008
  • Split-foot malformation, mesoaxial polydactyly syndrome   1172635005
  • Spondylocamptodactyly syndrome   716231009
  • Stapes ankylosis with broad thumb and toe syndrome   719305006
  • Sugarman brachydactyly   1187132007
  • Symphalangism with multiple anomalies of hands and feet syndrome   732955001
  • Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome   783553008
  • Syndactyly, nystagmus syndrome due to 2q31.1 microduplication   783562005
  • Syndactyly, polydactyly, ear lobe syndrome   783700001
  • Temple Baraitser syndrome   725140007
  • Temtamy preaxial brachydactyly syndrome   777998000
  • Thoracomelic dysplasia   783003009
  • Thumb deformity, alopecia, pigmentation anomaly syndrome   771182002
  • Thumb stiffness, brachydactyly, intellectual disability syndrome   733117001
  • Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome   764857004
  • Timothy syndrome type 1   699256006
  • Triphalangeal thumb and dislocation of patella syndrome   733456002
  • Triphalangeal thumb and polysyndactyly syndrome   719950001
  • Upper limb defect with eye and ear abnormalities syndrome   716110002
  • Urban Rogers Meyer syndrome   716334004
  • Waardenburg syndrome type 3   237918004
  • WT limb blood syndrome   719019000
  • X-linked lethal multiple pterygium syndrome   763462004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008

ancestors
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