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 |
| Fuhrmann syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Macular coloboma, cleft palate, hallux valgus syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| PHAVER syndrome | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Cryptomicrotia, brachydactyly, excess fingertip arch syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Temple Baraitser syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| 5-amino-4-imidazole carboxamide ribosiduria | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Craniosynostosis fibular aplasia syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Czeizel Losonci syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Symphalangism with multiple anomalies of hands and feet | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Sillence syndrome | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Camptobrachydactyly | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| OSLAM syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Absent tibia, polydactyly, arachnoid cyst syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Banki syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Say Field Coldwell syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Camptodactyly taurinuria syndrome | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Preaxial polydactyly, colobomata, intellectual disability syndrome | 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 | 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 | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Intellectual disability, spasticity, ectrodactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Hartsfield syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Carney complex, trismus, pseudocamptodactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Cono-spondylar dysplasia | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Radio-renal syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Lower limb malformation hypospadias syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Thumb deformity, alopecia, pigmentation anomaly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Ectrodactyly polydactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Hallux varus, preaxial polysyndactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Absent radius, anogenital anomalies syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some | |
| Ectodermal dysplasia syndactyly syndrome | Is a | True | Multiple malformation syndrome with limb defect as major feature | Inferred relationship | Some |
Start Page 2 of 2
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR