Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3763729019 | Urban Rifkin Davis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763730012 | Autosomal recessive cutis laxa type 1C | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3763731011 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763732016 | ARCL1C - autosomal recessive cutis laxa type 1C | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763733014 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 9402701000146118 | cutis laxa met ernstige pulmonale, gastro-intestinale en urinewegafwijkingen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10089611000146111 | autosomaal recessieve cutis laxa type 1C (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 10089621000146118 | autosomaal recessieve cutis laxa type 1C | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3763734015 | A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763735019 | A rare genetic dermis elastic tissue disorder characterised by generalised cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Is a | Cutis laxa, autosomal recessive | true | Inferred relationship | Some | ||
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 1 | |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) | Is a | Disorder involving the integument of fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR