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 |
| 108175012 | Multiple malformation syndrome with facial defects as major feature, NOS | en | Synonym | Inactive | Initial character 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 |
| CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Gabriele-de Vries syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Mucopolysaccharidosis-like plus disease | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Witteveen Kolk syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Basel Vanagaite Smirin Yosef syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hallermann Streiff like syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Sanjad Sakati syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Steel syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fryns Smeets Thiry syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Congenital hydrocephalus, low insertion of umbilicus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| SATB2-associated syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Mandibulofacial dysostosis with alopecia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Diaphragmatic hernia, short bowel, asplenia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| QRICH1-related intellectual disability, chondrodysplasia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Keppen Lubinsky syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Pierpont syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 1p35.2 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Xq25 microduplication syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 9q21.13 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Lethal brain and heart developmental defects syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 11q22.2q22.3 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 8q24.3 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Night blindness, skeletal anomalies, dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cerebellar-facial-dental syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Lamb Shaffer syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Oculocerebrodental syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Baraitser Winter cerebrofrontofacial syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Menke Hennekam syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| EVEN-plus syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| First arch syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Multiple malformation syndrome with facial-limb defects as major feature | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Melnick-Fraser syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Marshall syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fraser syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Robin sequence | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Waardenburg's syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Otocephalic syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Grob's syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Asymmetric crying face association | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cranio-orbito-ocular dysraphia syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cleft lip sequence | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Van der Woude syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Wildervanck syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Blepharophimosis syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Treacher Collins syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Frontonasal dysplasia sequence | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fryns syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Char syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Mandibulofacial dysostosis with microcephaly | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| McDonough syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Delayed membranous cranial ossification | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniofrontonasal dysplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Acromelic frontonasal dysplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Deafness craniofacial syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Crane Heise syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Binder syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Wellesley Carman French syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Gollop syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Haspeslagh Fryns Muelenaere syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Holoprosencephaly and postaxial polydactyly syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Goldblatt Wallis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Ichthyosis cheek eyebrow syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Fryns macrocephaly | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephaly with deafness and intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Mehes syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Shprintzen Goldberg omphalocele syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Thomas syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Trisomy 17p | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Syndromic orbital border hypoplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Koolen De Vries syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR