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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655994013 | Non-distal trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655995014 | Non-distal duplication 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655996010 | Non-distal trisomy 13q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655997018 | Non-telomeric trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5404450019 | Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404451015 | Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655994013 | Non-distal trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655995014 | Non-distal duplication 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655996010 | Non-distal trisomy 13q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655997018 | Non-telomeric trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3656002014 | A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656003016 | A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404450019 | Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404451015 | Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3441541001000119 | Duplikation 13q, nicht-distale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1003681000172119 | duplication non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1013761000172117 | trisomie non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1003681000172119 | duplication non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1013761000172117 | trisomie non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3441541001000119 | Duplikation 13q, nicht-distale | 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 |
| Non-distal trisomy 13q | Is a | 13q partial trisomy syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Non-distal trisomy 13q | Associated morphology | Partial trisomy | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Non-distal trisomy 13q | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Non-distal trisomy 13q | Finding site | Chromosome pair 13 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)