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 |
| 3706580018 | FILS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706581019 | FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706582014 | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706583016 | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3780948015 | FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706584010 | A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405156013 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405157016 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterised by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titres. Patients do not exhibit increased susceptibility to cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Finding site | Blood vessel structure of skin (body structure) | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Cutis marmorata telangiectasia congenita | false | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Interprets | Height / growth measure | false | Inferred relationship | Some | 4 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Fetal and/or neonatal disorder of integument | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Livedo reticularis | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Is a | Congenital vascular disorder (disorder) | true | Inferred relationship | Some | ||
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 4 | |
| Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR