Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330287017 | Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3330288010 | MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3330289019 | MEHMO syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3643127019 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3643128012 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3643161017 | X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3330290011 | MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Obesity | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Has definitional manifestation | Obese | false | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR