Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330718016 | Ossification anomaly with psychomotor developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330719012 | Ossification anomaly with psychomotor developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 758251000241115 | syndrome d'anomalies de l'ossification-retard psychomoteur (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 882971000172116 | syndrome d'anomalies de l'ossification-retard psychomoteur | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3330720018 | This syndrome has characteristics of hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330724010 | This syndrome has characteristics of hypomineralization of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of thorax | true | Inferred relationship | Some | ||
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure thoracique (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | Impaired mineralization | true | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | Disorder of thorax (disorder) | false | Inferred relationship | Some | ||
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | Dysplasia with defective mineralization | true | Inferred relationship | Some | ||
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | affection dégénérative | true | Inferred relationship | Some | ||
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure thoracique (structure corporelle) | false | Inferred relationship | Some | 3 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 | |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR