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 |
| Hypospadias, hypertelorism, coloboma, deafness syndrome | Is a | False | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability Buenos Aires type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Weaver Williams syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Pfeiffer Palm Teller syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cataract, congenital heart disease, neural tube defect syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, cataract, calcified pinna, myopathy syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| X-linked intellectual disability Nascimento type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cleft lip retinopathy syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cyprus facial neuromusculoskeletal syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| German syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Dysmorphism, pectus carinatum, joint laxity syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Bencze syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Stimmler syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Pseudoprogeria syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Mikati Najjar Sahli syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| SCARF syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Oculo-palato-digital syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Oculodento-osseous dysplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Kabuki make-up syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Solitary median maxillary central incisor syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Facial dysmorphism, cleft palate, loose skin syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Facial dysmorphism, conductive hearing loss, heart defect syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Craniofaciofrontodigital syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cerebrofacioarticular syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Velofacioskeletal syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Wiedemann Steiner syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| White forelock with malformations syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hypotonia, speech impairment, severe cognitive delay syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability Wolff type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Larsen-like syndrome B3GAT3 type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Macrocephaly and developmental delay syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Malan overgrowth syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Oculomaxillofacial dysostosis | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Neonatal Marfan syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Otofaciocervical syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| King Denborough syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephalic primordial dwarfism Montreal type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Nijmegen breakage syndrome-like disorder | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Diencephalic mesencephalic junction dysplasia | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Tall stature, intellectual disability, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephalic primordial dwarfism Alazami type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Combined immunodeficiency with faciooculoskeletal anomalies syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Prader-Willi-like syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephalic primordial dwarfism Dauber type | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 5p13 microduplication syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 2p13.2 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 11p15.4 microduplication syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| 3q27.3 microdeletion syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Familial omphalocele syndrome with facial dysmorphism | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Kagami Ogata syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Pilotto syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Edinburgh malformation syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Intellectual disability, short stature, hypertelorism syndrome | Is a | True | Multiple malformation syndrome with facial defects as major feature | Inferred relationship | Some | |
| Teebi Shaltout 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