Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757911018 | Distal deletion 20q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757913015 | Distal monosomy 20q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4555824014 | Distal monosomy 20q syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4555831013 | Distal monosomy 20q syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 7885931000146117 | distale monosomie 20q (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7885951000146111 | distale monosomie 20q | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8033271000146114 | distale monosomie van lange arm van chromosoom 20 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3757914014 | A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioural anomalies (for example autism spectrum disorder behaviours) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757915010 | A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 20 with a highly variable phenotype. Typical characteristics are global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (for example autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip and microretrognathia may be occasionally associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR