Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 39212019 | Multiple malformation syndrome with facial-limb defects as major feature | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 39213012 | Multiple malformation syndrome with facial-limb defects as major feature, NOS | en | Synonym | Inactive | Initial character case insensitive | SNOMED CT core |
| 752870014 | Multiple malformation syndrome with facial-limb defects 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 facial-limb defects as major feature | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Limb structure | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Is a | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial-limb defects as major feature | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial-limb defects as major feature | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Congenital malformation | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Congenital malformation | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Limb structure | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Limb structure | false | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial-limb defects as major feature | Finding site | Musculoskeletal structure of limb | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial-limb defects as major feature | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| CLAPO syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Cloverleaf skull with multiple congenital anomalies syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oromandibular-limb hypogenesis spectrum | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brain malformation, congenital heart disease, postaxial polydactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Juberg Hayward syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Radioulnar synostosis with developmental delay and hypotonia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Schilbach Rott syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Intellectual disability, balding, patella luxation, acromicria syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oto-palato-digital syndrome, type I | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Distal limb deficiency with micrognathia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Endocrine-cerebro-osteodysplasia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microlissencephaly micromelia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Syndactyly, telecanthus, anogenital and renal malformation syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Patterson Stevenson Fontaine syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Richieri Costa Pereira syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Keutel syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Crisponi syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniomicromelic syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Autosomal recessive faciodigitogenital syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Neurofaciodigitorenal syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oculoauriculovertebral spectrum with radial defects | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Splenogonadal fusion, limb defect, micrognathia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Cortical blindness, intellectual disability, polydactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ichthyosis, oral and digital anomalies syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Epilepsy telangiectasia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Spinocerebellar ataxia dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Telecanthus, hypertelorism, strabismus, pes cavus syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Eyebrow duplication syndactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Lethal multiple pterygium syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniodigital syndrome and intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Intellectual disability, polydactyly, uncombable hair syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Intellectual disability, brachydactyly, Pierre Robin syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Dislocation of hip and facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Keipert syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Verloove Vanhorick Brubakk syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Dyssegmental dysplasia Silverman Handmaker type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Otopalatodigital syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Infantile spasm and broad thumb syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Choanal atresia with radial ray hypoplasia | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Robin sequence and oligodactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects 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