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 |
5400990015 | A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400991016 | A rare genetic syndromic intellectual disability characterised by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)