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 |
| 3704764011 | Char Douglas Dungan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704765012 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704766013 | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704767016 | A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4224621000052115 | syndrom med extrasystolier, kortvuxenhet, hyperpigmentering och mikrocefali | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | mikrocefali | false | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Ventricular premature beats | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 3 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Finding site | Structure of ventricular conducting pathway (body structure) | true | Inferred relationship | Some | 2 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR