Cqgc Implementation Guide
0.1.0 - CI Build
Cqgc Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: http://fhir.cqgc.ferlab.bio/ValueSet/genor-default-exam | Version: 0.1.0 | |||
| Active as of 2025-07-03 | Computable Name: genor-default-exam | |||
Nuclear Mitochondriopathies default para-clinic exams
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
Expansion performed internally based on codesystem Observation codes v0.1.0 (CodeSystem)
This value set contains 32 concepts
| Code | System | Display |
| OBSG | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | General Observation |
| INDIC | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Indication |
| INVES | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Investigation |
| BMUS | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Muscle Biopsy |
| BMET | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Metabolic Work-Up |
| CKIN | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Serum Creatine Kinase |
| CAAP | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Plasma Amino Acid Chromatography |
| ACYL | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Acylcarnitines |
| IRMC | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Cerebral MRI |
| IRMM | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Muscle MRI |
| SRMN | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | NMR Spectroscopy |
| ECAR | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Cardiac Ultrasound |
| EABD | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Abdominal Ultrasound |
| EEG | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Electroencephalogram (EEG) |
| EMG | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Electromyography (EMG) |
| OPHT | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Ophthalmological Examination |
| CONS | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Consanguinity |
| DSTA | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Patient Disease Status |
| CTGR | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | CTG Repeat Testing (Steinert Disease) |
| GCNR | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy) |
| TGDD | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Deletions and Duplications Testing (Duchenne and Becker Dystrophies) |
| CGH | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Comparative Genomic Hybridization |
| TSXF | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Fragile X Syndrome Testing |
| MMTH | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Missing Mother |
| MFTH | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Missing Father |
| ETHN | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Ethnicity |
| PHEN | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Clinical Sign (HPO) |
| CNVPG | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Genomic CNV analysis |
| QFPCR | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Rapid detection of fetal aneuploidies (QF-PCR) |
| LPWGS | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | CNV (Microarray/LP-WGS) |
| PG | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Gene Panel |
| LP | http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code | Lymphocyte Phenotyping |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |