Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728131018 | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3728132013 | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3728133015 | MOMES syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3727986015 | A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 4 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Finding site | Eye region structure | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Obesity | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Disorder of eye region | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 4 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set