FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
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 |
| 3317088013 | 1p21.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317090014 | 1p21.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317106013 | Monosomy 1p21.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402176010 | 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402177018 | 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterised by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3317088013 | 1p21.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3317088013 | 1p21.3 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317090014 | 1p21.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3317090014 | 1p21.3 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317106013 | Monosomy 1p21.3 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3317106013 | Monosomy 1p21.3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317107016 | An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402176010 | 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402177018 | 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterised by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3429891001000110 | Mikrodeletionssyndrom 1p21.3 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1002731000172116 | del(1)p(21.3) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1009411000172112 | syndrome de microdélétion 1p21.3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1002731000172116 | del(1)p(21.3) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1009411000172112 | syndrome de microdélétion 1p21.3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3429891001000110 | Mikrodeletionssyndrom 1p21.3 | 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 |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | 1p partial monosomy | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | retard mental | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | trouble autistique | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Finding site | Chromosome pair 1 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Associated morphology | Deletion of short arm | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Finding site | Chromosome pair 1 | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | Intelligenzminderung | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Finding site | Short arm of chromosome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | Congenital malformation | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
| 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. | Is a | Pervasive developmental disorder (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)