Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304685012 | Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304686013 | Follicular hamartoma with alopecia and cystic fibrosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
8138931000146119 | syndroom van folliculair hamartoom, alopecia en cystische fibrose | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8138941000146110 | syndroom van folliculair hamartoom, alopecia en cystische fibrose (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3304687016 | A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Alopecia | true | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Cystic fibrosis | true | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Hair follicle finding | false | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Hamartoma of skin (disorder) | false | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Hamartoma of pilosebaceous apparatus (disorder) | true | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Associated morphology | Hamartoma | true | Inferred relationship | Some | 3 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Finding site | Hair follicle structure | true | Inferred relationship | Some | 3 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Interprets | Mucociliary clearance | true | Inferred relationship | Some | 1 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Associated morphology | defect | false | Inferred relationship | Some | 4 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Finding site | Respiratory tract structure | true | Inferred relationship | Some | 4 | |
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | aandoening van haarfollikel | true | Inferred relationship | Some | ||
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets