Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424645013 | Noonan syndrome-like disorder with loose anagen hair (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424646014 | Noonan syndrome-like disorder with loose anagen hair | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424647017 | Tosti syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424648010 | A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403063013 | A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403064019 | A Noonan-related syndrome, characterised by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Congenital anomaly of hair | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Multiple malformation syndrome, moderate short stature, facial | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Loose anagen hair syndrome | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Congenital anomaly of face (disorder) | true | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Noonan syndrome-like disorder with loose anagen hair (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 3 | |
Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)