Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3430960014 | Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430961013 | MOMO syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3430962018 | Macrocephaly, obesity, mental disability, ocular abnormality syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430963011 | MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3430964017 | A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Macrocephaly | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Disorder of eye region (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Has definitional manifestation | Obese (finding) | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Finding site | Eye region structure (body structure) | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Finding site | Eye region structure (body structure) | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR