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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | true | Inferred relationship | Some | 1 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | survenue (attribut) | congénital | 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) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 2 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Macrocephaly | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with early overgrowth (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Disorder of eye region (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Obesity (disorder) | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est défini par la manifestation de (attribut) | Obese (finding) | false | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 3 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | false | Inferred relationship | Some | 4 | |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR