Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303220015 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303221016 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303222011 | MORM syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303223018 | Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305363018 | MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303224012 | Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Congenital hypoplasia of penis (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Central obesity | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Has definitional manifestation | Obese (finding) | false | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 3 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 4 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Finding site | Penile structure | false | Inferred relationship | Some | 4 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Finding site | Penile structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR