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 |
| 3323604010 | Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323605011 | Global developmental delay, osteopenia, ectodermal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 751571000241118 | syndrome de retard de développement-ostéopénie-anomalies ectodermiques (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 889421000172119 | syndrome de retard de développement-ostéopénie-anomalies ectodermiques | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3323610010 | This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behaviour (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323611014 | This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behavior (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | morphologie associée (attribut) | Osteopenia | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | est un(e) (attribut) | Congenital ectodermal defect | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | est un(e) (attribut) | Osteopenia | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | est un(e) (attribut) | affection congénitale du tissu conjonctif | false | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | morphologie associée (attribut) | Osteopenia | false | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR