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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
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
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

306 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) structure anormale sur le plan morphologique 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
Multiple malformation syndrome with limb defect as major feature est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with limb defect as major feature survenue (attribut) congénital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de microdélétion 14q22q23 est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Radial deficiency, tibial hypoplasia syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Thoracomelic dysplasia (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Antecubital pterygium syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Odontotrichomelic syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hand-foot-genital syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Timothy syndrome type 2 (disorder) est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrocardiofacial syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrocephalosyndactyly est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Klein-Waardenberg's syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Timothy syndrome type 1 (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Femoral hypoplasia - unusual facies syndrome est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Popliteal web syndrome est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Child syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Levy-Hollister syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Nievergelt's syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome d'Adams-Oliver (trouble) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Poland anomaly est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Popliteal pterygium syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Limb reduction-ichthyosis syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aase syndrome est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Grebe syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Escobar syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Polysyndactyly syndrome est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
RAPADILINO syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Limb body wall complex (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) 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) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Absence deformity of leg and congenital cataract syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
WT limb blood syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
DK phocomelia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acro-pectoro-renal dysplasia est un(e) (attribut) False Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acropectorovertebral dysplasia (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acrorenal syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Cenani Lenz syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Curry Jones syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Fibular dimelia diplopodia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Heart-hand syndrome type 2 (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Heart-hand syndrome type 3 (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de maladie de Hirschsprung-brachydactylie type D est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Congenital microgastria with limb reduction defect syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Oculootoradial syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Catel Manzke syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some
syndrome de Furhmann est un(e) (attribut) True Multiple malformation syndrome with limb defect as major feature Inferred relationship Some

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