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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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
69120017 Multiple malformation syndrome with limb defect as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
778232013 Multiple malformation syndrome with limb defect as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4898271000005119 multimisdannelsessyndrom med defekt på ekstremiteter en som væsentligste træk da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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