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 |
| Jawad syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Zechi Ceide syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Emery Nelson syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Arthrogryposis and ectodermal dysplasia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Femoral hypoplasia - unusual facies syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Fryns syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofrontofacionasal dysostosis type 2 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniofacial deafness hand syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Camptodactyly syndrome Guadalajara type 3 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Eye defects, arachnodactyly, cardiopathy syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| 20q11.2 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| PDE4D haploinsufficiency syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| 16p12.1p12.3 triplication syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| 4q25 proximal deletion syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| 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 | 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 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Autosomal recessive distal osteolysis syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocallosal syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Seaver Cassidy syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Pseudoaminopterin syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Steinfeld syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Chitty Hall Baraitser syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Multicentric osteolysis nodulosis arthropathy spectrum | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trisomy 10p | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Aase Smith type 1 syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Spondyloepiphyseal dysplasia Cantu type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Stevenson type | 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 | 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 | 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 | 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 | 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 | |
| Microcephaly with albinism and digital anomaly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type | 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 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| X-linked mandibulofacial dysostosis | 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 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ulbright Hodes syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Ulna fibula ray defect and brachydactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Tel Hashomer camptodactyly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trigonocephaly with bifid nose and acral anomaly syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Trigonocephaly with broad thumb syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofrontofacionasal dysostosis | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acro-oto-ocular syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrorenal mandibular syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocephalopolydactyly | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrocraniofacial dysostosis | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acromegaloid facial appearance syndrome | 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 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Camptodactyly syndrome Guadalajara type 1 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Catania type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Kennedy Teebi type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Palagonia type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Acrofacial dysostosis Rodriguez type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Adducted thumbs and arthrogryposis syndrome Christian type | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Bohring Opitz syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brachymorphism with onychodysplasia and dysphalangism syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Brachytelephalangy, facial dysmorphism, Kallmann syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Craniofacial conodysplasia syndrome | 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 | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Filippi syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| Alopecia, contracture, dwarfism, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some | |
| CLAPO syndrome | Is a | True | Multiple malformation syndrome with facial-limb defects as major feature | Inferred relationship | Some |
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Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR