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

CodeSystem: Ferlab.bio CodeSystem/observation-code

Official URL: http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code Version: 0.1.0
Active as of 2025-08-01 Computable Name: observation-code

Codes of observations in our system

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code defines the following codes:

CodeDisplayFrench (fr)
OBSG General Observation Observation générale
INDIC Indication Indication
INVES Investigation Investigation
BMUS Muscle Biopsy Biopsie musculaire
BMET Metabolic Work-Up Bilan métabolique
CKIN Serum Creatine Kinase Créatine kinase sérique
CAAP Plasma Amino Acid Chromatography Chromatographie acides aminés plasmatiques
ACYL Acylcarnitines Acylcarnitines
IRMC Cerebral MRI IRM cérébrale
IRMM Muscle MRI IRM musculaire
SRMN NMR Spectroscopy Spectroscopie RMN
ECAR Cardiac Ultrasound Échographie cardiaque
EABD Abdominal Ultrasound Échographie abdominale
EEG Electroencephalogram (EEG) Électroencéphalogramme (EEG)
EMG Electromyography (EMG) Electromyographie (EMG)
OPHT Ophthalmological Examination Examen ophtalmologique
CONS Consanguinity Consanguinité
DSTA Patient Disease Status Statut de la maladie du patient
CTGR CTG Repeat Testing (Steinert Disease) Test répétitions CTG (maladie de Steinert)
GCNR GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy) Test répétitions GCN (dystrophie musculaire oculopharyngée)
TGDD Deletions and Duplications Testing (Duchenne and Becker Dystrophies) Test délétions et duplication (dystrophies Duchenne et Becker)
CGH Comparative Genomic Hybridization Hybridation génomique comparative
TSXF Fragile X Syndrome Testing Test syndrome de X fragile
MMTH Missing Mother Mère manquante
MFTH Missing Father Père manquant
ETHN Ethnicity Ethnicité
PHEN Clinical Sign (HPO) Signe clinique (HPO)
CNVPG Genomic CNV analysis Analyse CNV pan-génomique
QFPCR Rapid detection of fetal aneuploidies (QF-PCR) Détection rapide des aneuploïdies (QF-PCR)