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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 23143016 | Ring chromosome 22 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 738916012 | Ring chromosome 22 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4212339018 | An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4212340016 | An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 23143016 | Ring chromosome 22 syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 23143016 | Ring chromosome 22 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 738916012 | Ring chromosome 22 syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 738916012 | Ring chromosome 22 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4212339018 | An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4212340016 | An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3427281001000118 | Ringchromosom-22-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 922861000172118 | syndrome du chromosome 22 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 944321000172110 | chromosome 22 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 922861000172118 | syndrome du chromosome 22 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 944321000172110 | chromosome 22 en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3427281001000118 | Ringchromosom-22-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Is a | Anomaly of chromosome pair 22 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Is a | Chromosome replaced with ring or dicentric | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Finding site | Chromosome pair 22 | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Associated morphology | Ring chromosome | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Finding site | Sex chromosome | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Associated morphology | anomalie congénitale | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Finding site | Chromosome pair 22 | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Associated morphology | anomalie congénitale | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Associated morphology | Cellular AND/OR subcellular abnormality | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Finding site | Chromosome pair 22 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Is a | Ring chromosome (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Associated morphology | Ring chromosome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets