Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702446016 | Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702447013 | Intellectual disability, seizures, macrocephaly, obesity syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3702448015 | A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | localisation d'une constatation (attribut) | Sex chromosome X (cell structure) | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | morphologie associée (attribut) | Chromosomal morphology | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 6 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 6 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Anomaly of chromosome X | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Childhood obesity (disorder) | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 4 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | survenue (attribut) | enfance | true | Inferred relationship | Some | 5 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | est un(e) (attribut) | Macrocephaly | false | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets