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41443008: Multiple malformation syndrome with limb defect as major feature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
69120017 Multiple malformation syndrome with limb defect as major feature en Synonym Active Entire term case insensitive SNOMED CT core module
69121018 Multiple malformation syndrome with limb defect as major feature, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
778232013 Multiple malformation syndrome with limb defect as major feature (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

313 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with limb defect as major feature Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with limb defect as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with limb defect as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with limb defect as major feature Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with limb defect as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with limb defect as major feature Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Femoral hypoplasia - unusual facies syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Child syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Holt-Oram syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Multiple malformation syndrome with facial-limb defects as major feature Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Levy-Hollister syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Nievergelt's syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Adams-Oliver syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Poland anomaly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Popliteal pterygium syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Limb reduction-ichthyosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aase syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Grebe syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Escobar syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Polysyndactyly syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Radial aplasia-thrombocytopenia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Popliteal web syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
RAPADILINO syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Ophthalmo-acromelic syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Rhizomelic dysplasia of Patterson Lowry type Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aplasia of fibula co-occurrent with complex brachydactyly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Limb body wall complex Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Spondylocamptodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Intellectual disability and short stature with hand contracture and genital anomaly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Absence deformity of leg and congenital cataract syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Mammary digital nail syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
WT limb blood syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Stapes ankylosis with broad thumb and toe syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Absent thumb with short stature and immunodeficiency syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acropectoral syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acropectororenal dysplasia Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acrorenoocular syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acropectorovertebral dysplasia Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acrorenal syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Campomelia Cumming type Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 2 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aniridia and absent patella syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aphalangy and syndactyly with microcephaly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Syndactyly type 7 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Cooks syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Capra DeMarco syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Craniosynostosis Philadelphia type Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Curry Jones syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Fibular dimelia diplopodia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Heart defect and limb shortening syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Heart-hand syndrome type 2 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Heart-hand syndrome type 3 Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Heart-hand syndrome Slovenian type Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Postaxial polydactyly and intellectual disability syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Short fifth metacarpal insulin resistance syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aplasia of fibula and ectrodactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Hirschsprung disease with type D brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Congenital microgastria with limb reduction defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Karsch Neugebauer syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Oculootoradial syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Ballard syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Catel Manzke syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Fuhrmann syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Cryptomicrotia brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Temple Baraitser syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
5-amino-4-imidazole carboxamide ribosiduria Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Caudal appendage deafness syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Craniosynostosis fibular aplasia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Symphalangism with multiple anomalies of hands and feet syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Brachydactyly and distal symphalangism syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Brachydactyly and preaxial hallux varus syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Congenital hypoplasia of ulna and split foot syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Camptobrachydactyly Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Banki syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Triphalangeal thumb and dislocation of patella syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Camptodactyly taurinuria syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Long thumb brachydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Polydactyly myopia syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier
X-linked lethal multiple pterygium syndrome Is a True Multiple malformation syndrome with limb defect as major feature Inferred relationship Existential restriction modifier

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