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 |
| 3304306016 | Autosomal recessive primary microcephaly (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304307013 | Autosomal recessive primary microcephaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311024018 | Microcephalia vera | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311025017 | True microcephaly | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401177016 | Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401178014 | Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterised by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive primary microcephaly (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Autosomal recessive primary microcephaly (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive primary microcephaly (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Autosomal recessive primary microcephaly (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive primary microcephaly (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive primary microcephaly (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Autosomal recessive primary microcephaly (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
| Autosomal recessive primary microcephaly (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive primary microcephaly (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR