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 |
| 6905991000146112 | syndroom van algehele ontwikkelingsachterstand, osteopenie en ectodermaal defect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6906001000146111 | syndroom van algehele ontwikkelingsachterstand, osteopenie en ectodermaal defect (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6906011000146113 | syndroom van globale ontwikkelingsachterstand, osteopenie en ectodermaal defect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Is a | Congenital ectodermal defect | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Is a | Osteopenia | true | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Is a | Congenital connective tissue disorder | false | Inferred relationship | Some | ||
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Associated morphology | osteopenie | false | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 3 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| 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) | Is a | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Associated morphology | osteopenie | false | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) | Associated morphology | Demineralized structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR