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 |
| 3304308015 | Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3884291000052119 | autosomalt recessiv primär 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 |
| Autosomal recessive primary microcephaly (disorder) | Is a | mikrocefali | 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 | true | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR