Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 108174011 | Multiple malformation syndrome with facial defects as major feature | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 804559017 | Multiple malformation syndrome with facial 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 defects as major feature | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial defects as major feature | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial defects as major feature | Associated morphology | Congenital malformation | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial defects as major feature | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial defects as major feature | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial defects as major feature | Is a | Congenital anomaly of face | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with facial defects as major feature | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial defects as major feature | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with facial defects as major feature | Occurrence | Congenital | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Koolen De Vries syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Harrod syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Wolf Hirschhorn syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Rozin Hertz Goodman syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Sonoda syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 3C syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ablepharon macrostomia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Seemanova type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Shashi type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Siderius type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Stoll type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| W syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 14q11.2 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Shprintzen-Goldberg syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Short stature Brussels type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Branchioskeletogenital syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephaly cleft palate syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Malignant hyperthermia with arthrogryposis and torticollis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cleft palate with short stature and vertebral anomaly syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Gingival fibromatosis with facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability with plagiocephaly syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 8q22.1 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Wilson Turner syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Van den Ende-Gupta syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Trisomy Xq28 | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Temtamy syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Anophthalmia plus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Arrhinia with choanal atresia and microphthalmia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Arthrogryposis multiplex congenita and whistling face syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cerebro-facio-thoracic dysplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| CHIME syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniofacial dyssynostosis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniosynostosis and intracranial calcification syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cernunnos-XLF deficiency | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cerebrooculonasal syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ehlers-Danlos syndrome musculocontractural type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fountain syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Frank-Ter Haar syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Chudley Lowry Hoar syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| CODAS syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fine Lubinsky syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hall Riggs syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Short stature with webbed neck and congenital heart disease syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Short tarsus with absence of lower eyelashes syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Deafness and intellectual disability Martin Probst type syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Goldberg Shprintzen megacolon syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Beemer Ertbruggen syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| BNAR syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hernandez Aguirre Negrete syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Holmes Gang syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypertrichosis and acromegaloid facial appearance syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypomandibular faciocranial dysostosis | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Juberg Marsidi syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Qazi Markouizos syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Blepharonasofacial malformation syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Say Barber Miller syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Lymphoedema, atrial septal defect, facial changes syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypertelorism with microtia and facial clefting syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Isotretinoin-like syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Kapur Toriello syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Macrocephaly, short stature, paraplegia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Oculocerebrofacial syndrome Kaufman type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Okamoto syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Congenital hereditary facial paralysis with variable hearing loss syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ectodermal dysplasia with blindness syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| GAPO syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Osteosclerosis, developmental delay, craniosynostosis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Overgrowth, macrocephaly, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Severe X-linked intellectual disability Gustavson type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Perlman syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Agnathia, holoprosencephaly, situs inversus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Auriculoocular anomaly and cleft lip syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Thickened earlobe with conductive deafness syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Toriello Carey syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Faciocardiorenal syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microbrachycephaly, ptosis, cleft lip syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ramos Arroyo syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Simpson-Golabi-Behmel syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Simpson Golabi Behmel syndrome type 2 | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Polyvalvular heart disease syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Renier Gabreels Jasper syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Freeman-Sheldon syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Kleefstra syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypospadias, hypertelorism, coloboma, deafness syndrome | Is a | False | Multiple malformation syndrome with facial 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