Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 69121018 | Multiple malformation syndrome with limb defect as major feature, NOS | en | Synonym | Inactive | Initial character case insensitive | SNOMED CT core |
| 778232013 | Multiple malformation syndrome with limb defect as major feature (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple malformation syndrome with limb defect as major feature | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with limb defect as major feature | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 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 | Associated morphology | Congenital 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 | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with limb defect as major feature | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 14q22q23 microdeletion syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Postaxial polydactyly, dental, vertebral anomalies syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Temtamy preaxial brachydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| FATCO syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Radial deficiency, tibial hypoplasia syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Thoracomelic dysplasia | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Syndactyly, polydactyly, ear lobe syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Heart defect, tongue hamartoma, polysyndactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| External auditory canal atresia, vertical talus, hypertelorism syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Antecubital pterygium syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Odontotrichomelic syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Hand-foot-genital syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Timothy syndrome type 2 | Is a | False | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acrocardiofacial syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Triphalangeal thumb and polysyndactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Mirror hands and feet co-occurrent with nasal defect | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acrocephalosyndactyly | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Split-foot malformation, mesoaxial polydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Klein-Waardenberg's syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Mirror polydactyly, vertebral segmentation and limb defect syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Sugarman brachydactyly | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Short stature, brachydactyly, obesity, global developmental delay syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Timothy syndrome type 1 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Femoral hypoplasia - unusual facies syndrome | Is a | False | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Popliteal web 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 | 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 | |
| Polysyndactyly syndrome | 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 | |
| RAPADILINO syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Ophthalmo-acromelic syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Rhizomelic dysplasia Patterson Lowry type | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Fibular aplasia and complex brachydactyly | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Limb body wall complex | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Upper limb defect with eye and ear abnormalities syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Spondylocamptodactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Urban Rogers Meyer syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| L1 syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Absence deformity of leg and congenital cataract syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Mammary digital nail syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| WT limb blood syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Von Voss-Cherstvoy syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Radioulnar synostosis with microcephaly and scoliosis syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Stapes ankylosis with broad thumb and toe syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Absent thumb with short stature and immunodeficiency syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acropectoral syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acro-pectoro-renal dysplasia | Is a | False | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acrorenoocular syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acropectorovertebral dysplasia | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acrorenal syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Campomelia Cumming type | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Camptodactyly syndrome Guadalajara type 2 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Acro-dermato-ungual-lacrimal-tooth syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Aniridia and absent patella syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Aphalangy and syndactyly with microcephaly syndrome | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Craniosynostosis Philadelphia type | 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 | |
| EEM syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Fibular dimelia diplopodia syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Angel-shaped phalangoepiphyseal dysplasia | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Heart defect and limb shortening syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Heart-hand syndrome type 2 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Heart-hand syndrome type 3 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Heart-hand syndrome Slovenian type | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Oliver syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Short fifth metacarpal insulin resistance syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Fibular aplasia and ectrodactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Coloboma of macula with brachydactyly type B syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Hirschsprung disease with deafness and polydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Hirschsprung disease with type D brachydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Congenital microgastria with limb reduction defect syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Lung agenesis with heart defect and thumb anomaly syndrome | 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 | |
| IVIC syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Ballard syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Catel Manzke syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Guttmacher syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Fuhrmann syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some |
Page 1 of 2 End
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR