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/sequencing-request-code | Version: 0.1.0 | |||
| Active as of 2025-08-01 | Computable Name: sequencing-request-codes | |||
Sequencing request codes
References
This value set includes codes based on the following rules:
http://fhir.cqgc.ferlab.bio/CodeSystem/sequencing-request-codehttp://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code
Expansion performed internally based on:
This value set contains 38 concepts
| Code | System | Display (en-US) | Definition |
| 75020 | http://fhir.cqgc.ferlab.bio/CodeSystem/sequencing-request-code | Normal Exome Sequencing | |
| 65241 | http://fhir.cqgc.ferlab.bio/CodeSystem/sequencing-request-code | Tumoral Exome Sequencing | |
| 65240 | http://fhir.cqgc.ferlab.bio/CodeSystem/sequencing-request-code | Tumoral Trancriptome Sequencing | |
| 75022 | http://fhir.cqgc.ferlab.bio/CodeSystem/sequencing-request-code | Normal Genome Sequencing | |
| MMG | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Global Muscular Diseases | |
| DYSM | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Muscular Dystrophies | |
| RHAB | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Rhabdomyolysis | |
| MITN | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Nuclear Mitochondriopathies | |
| MYOC | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Congenital Myopathies | |
| MYAC | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Congenital Myasthenia | |
| HYPM | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Malignant Hyperthermia | |
| RGDI | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Global Developmental Delay / Intellectual Disability (Trio) | |
| POLYM | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Polymalformation postnatal context | |
| TRATU | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Tumoral Transcriptome | |
| TUHEM | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Hematological Malignancies Predisposition | |
| TUPED | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Pediatric Cancer Predisposition | |
| EXTUM | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Tumoral Analysis | |
| SHEMA | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Leukemia (Somatic) | |
| SCID | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Severe Combined Immune Deficiency | |
| STMO | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Soft Tissue and Bone Sarcoma | |
| FEAN | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Fetal anomalies | This test is indicated for fetuses with one of the following presentations: 1) multisystem involvement in the presence of 2 or more major congenital anomalies, 2) non-immune hydrops fetalis, 3) intra-uterin growth retardation in the presence of a major congenital anomaly, 4) an isolated major congenital anomaly suggestive of a monogenic disorder, for which a molecular diagnosis could have an impact on the management of the pregnancy or the child at birth. In the context of this test and according to the CDC definition, a major anomaly is defined as a structural abnormality present before birth that results in significant medical, social, or cosmetic consequences. Typically, it requires medical intervention, as opposed to a minor anomaly. |
| DPSO | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Superoxide production defect | |
| EIDC | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Inherited complement errors | |
| EIDI | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Inborn errors of immunity | Primary immunodeficiency (aka innate errors of immunity; IEI) disorders are genetic conditions that cause defects in the immune system, leading to increased susceptibility to infections and other health problems. These disorders are caused by mutations in genes that are essential for immune system function. They are primarily caused by genetic mutations that affect various components of the immune system, including B cells, T cells, and phagocytes. |
| EIII | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Inherited errors of intrinsic immunity | |
| EPIL | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Epilepsy without intellectual disability | Epilepsy is a neurodevelopmental disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain. The condition can vary widely in terms of severity, frequency, and type of seizures experienced. Epilepsy can be either isolated or, as is often the case in pediatrics, comorbid with developmental delay and intellectual disability (ID). |
| HDIP | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Hypogammaglobulinemia and primary immune dysregulation | |
| HLEB | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Lymphohistiocytic hemophagocytosis and chronic active Epstein-Barr virus infection | |
| HLH | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Hemophagocytic lymphohistiocytosis | Hemophagocytic lymphohistiocytosis (HLH) is a devastating, hyper-inflammatory condition that results in multi-organ failure and death. The systemic inflammation that characterizes the disease results from the inappropriate and dysregulated activation of natural killer (NK) cells, CD8+ cytotoxic T-cells, and macrophages. The disease is classified as either primary (resulting from inherited genetic mutations) or secondary (an inappropriate host response to infection, malignancy, or autoimmune disease). Patients with primary disease present early in childhood, whereas those with secondary disease present as adults with an associated acute illness, most commonly sepsis or a hematologic malignancy. Treatment is focused on immunosuppression coupled with cytotoxic chemotherapy, without which large proportions of patients inevitably die (https://www.ncbi.nlm.nih.gov/books/NBK557776/). |
| MAI | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Autoinflammatory diseases | |
| MSMD | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Mendelian Susceptibility to Mycobacterial Diseases | |
| NPC | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Congenital neutropenia | |
| RETINO | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Retinopathy | |
| SHIGE | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Hyper-IgE syndrome | |
| SLA | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Amyotrophic lateral sclerosis | |
| SURD | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Hearing loss | |
| VEOIB | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Very Early Onset Intestinal Bowl Disease | Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is defined as Inflammatory Bowel Disease (IBD) diagnosed before the age of 6. It's a less common form of IBD, with a higher likelihood of being caused by a genetic defect or underlying immunodeficiency compared to IBD diagnosed at older ages. |
| GENOR | http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code | Normal Genome |
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 |