Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 38878012 | Proteus syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 66291000077118 | syndrome de Protée | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 688451000077115 | syndrome de Protée (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 752637018 | Proteus syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 894241000172113 | syndrome de Proteus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 4011208018 | A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Paving stone naevus | est un(e) (attribut) | False | Proteus syndrome | Inferred relationship | Some | |
| Port-wine stain in proteus syndrome (disorder) | est un(e) (attribut) | True | Proteus syndrome | Inferred relationship | Some |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR