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 |
| 39212019 | Multiple malformation syndrome with facial-limb defects as major feature | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 752870014 | Multiple malformation syndrome with facial-limb defects as major feature (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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 | Developmental anomaly | 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 | ||
| 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 | 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 anomaly | 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 anomaly | 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 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Multiple malformation syndrome with facial-limb defects as major feature | Pathological process (attribute) | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Coffin-Lowry syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trichorhinophalangeal syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Townes syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ruvalcaba syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Nager syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oculodentodigital syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ectrodactyly-ectodermal dysplasia-clefting syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Mietens syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oto-palato-digital syndrome, type II | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Roberts-SC phocomelia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| FG syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Oral-facial-digital syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Hay-Wells syndrome of ectodermal dysplasia | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Larsen syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Miller syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Stickler syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Shprintzen syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ophthalmomandibulomelic dysplasia (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocallosal syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Seaver Cassidy syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Pseudoaminopterin syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Steinfeld syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Deafness with epiphyseal dysplasia and short stature syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Multicentric osteolysis nodulosis arthropathy spectrum (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trisomy 10p (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Stevenson type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Carpenter Waziri syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Smith Fineman Myers syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Pyknoachondrogenesis (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Pelviscapular dysplasia | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephalus with albinism and digital anomaly syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Hadziselimovic syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Lethal faciocardiomelic dysplasia (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked mandibulofacial dysostosis (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Renal dysplasia with limb defect syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ulna fibula ray defect and brachydactyly syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Tel Hashomer camptodactyly syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trigonocephaly with broad thumb syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofrontofacionasal dysostosis (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrootoocular syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrorenal mandibular syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocephalopolydactyly (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocraniofacial dysostosis (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acromegaloid facial appearance syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Camptodactyly syndrome Guadalajara type 1 (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Catania type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Kennedy Teebi type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Palagonia type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Rodriguez type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Adducted thumbs and arthrogryposis syndrome Christian type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Bohring Opitz syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniofacial conodysplasia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniosynostosis with facial dysmorphism and brachydactyly syndrome | Is a | False | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniosynostosis Boston type (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Filippi syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Cloverleaf skull with multiple congenital anomalies syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) | 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 (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Juberg Hayward syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Schilbach Rott syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) | 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 (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Endocrine-cerebro-osteodysplasia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microlissencephaly micromelia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) | 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 (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Patterson Stevenson Fontaine syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Keutel syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Crisponi syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniomicromelic syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Autosomal recessive faciodigitogenital syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Neurofaciodigitorenal syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Hemifacial microsomia with radial defect syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) | 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 (disorder) | 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 (disorder) | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some |
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This concept is not in any reference sets
FHIR