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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | localisation d'une constatation (attribut) | pénis (structure corporelle) | 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) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Congenital hypoplasia of penis | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Central obesity | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est défini par la manifestation de (attribut) | Obese (finding) | false | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 3 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | localisation d'une constatation (attribut) | pénis (structure corporelle) | false | Inferred relationship | Some | 4 | |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets