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 |
| 3705565019 | POIKTMP syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705566018 | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705567010 | POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705568017 | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 770531000241113 | syndrome de poïkilodermie héréditaire fibrosante-myopathie rétractile-fibrose pulmonaire (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941741000172119 | syndrome POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 958971000172117 | syndrome de poïkilodermie héréditaire fibrosante-myopathie rétractile-fibrose pulmonaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3705569013 | A rare genetic hereditary poikiloderma syndrome characterised by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphoedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and haematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705570014 | A rare genetic hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | localisation d'une constatation (attribut) | tendon | true | Inferred relationship | Some | 1 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | morphologie associée (attribut) | Poikiloderma | true | Inferred relationship | Some | 3 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | maladie pulmonaire chronique | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | true | Inferred relationship | Some | 2 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | morphologie associée (attribut) | Fibrosis | true | Inferred relationship | Some | 2 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Chronic disease of respiratory system | false | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Hereditary sclerosing poikiloderma | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | fibrose pulmonaire | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | maladie chronique de la peau | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 5 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | maladie chronique de l'appareil locomoteur | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | affection d'un muscle squelettique | true | Inferred relationship | Some | ||
| Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | est un(e) (attribut) | Tendon contracture | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR