Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702465012 | 2p21 microdeletion syndrome without cystinuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702466013 | 2p21 microdeletion syndrome without cystinuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702467016 | A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 948021000172119 | syndrome de microdélétion 2p21 sans cystinurie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1014641000172114 | del(2)(p21) sans cystinurie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Finding site | Chromosome pair 2 | false | Inferred relationship | Some | 2 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 1 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 2p21 microdeletion syndrome without cystinuria (disorder) | Is a | Deletion of part of short arm of chromosome 2 (disorder) | true | Inferred relationship | Some | ||
| 2p21 microdeletion syndrome without cystinuria (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Finding site | Chromosome pair 2 | true | Inferred relationship | Some | 1 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 2p21 microdeletion syndrome without cystinuria (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| 2p21 microdeletion syndrome without cystinuria (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 2 | |
| 2p21 microdeletion syndrome without cystinuria (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR