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405824009: Genetic test (procedure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2149654019 Genetic test (procedure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2157598014 Genetic test en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
366581000077115 genetic test fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

39 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic test (procedure) Is a Laboratory test true Inferred relationship Some
Genetic test (procedure) Method Evaluation - action false Inferred relationship Some
Genetic test (procedure) Method Evaluation - action true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Atopy Interprets True Genetic test (procedure) Inferred relationship Some 1
N-acetyltransferase 2 slow acetylator (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human leukocyte antigen genotype determination Is a True Genetic test (procedure) Inferred relationship Some
Genetic susceptibility to malignant hyperthermia (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets False Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets False Genetic test (procedure) Inferred relationship Some 1
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Post-transcriptional genetic ribonucleic acid processing (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human epidermal growth factor receptor 2 gene amplification detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Tumor mutational burden (finding) Interprets True Genetic test (procedure) Inferred relationship Some 3
High tumour mutational burden Interprets True Genetic test (procedure) Inferred relationship Some 3
Low tumor mutational burden (finding) Interprets True Genetic test (procedure) Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. Interprets True Genetic test (procedure) Inferred relationship Some 7
Hypermelanotic pigmentary mosaicism Interprets True Genetic test (procedure) Inferred relationship Some 2
Hereditary non-polyposis colon cancer gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Mitochondrial 1555 A to G mutation not detected Interprets True Genetic test (procedure) Inferred relationship Some 1
Mitochondrial 1555 A to G mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Heterozygous protocadherin 19 gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human leukocyte antigen B27 not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Human epidermal growth factor 2 gene amplification not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 2
Genetic predisposition to malignant neoplasm of prostate (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Heterozygous NFKBIA gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Triplicated alpha globin gene Interprets True Genetic test (procedure) Inferred relationship Some 1
Hereditary alpha-tryptasemia trait detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic screening for disorder Is a True Genetic test (procedure) Inferred relationship Some
Splice site mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Missense mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Synonymous single nucleotide substitution Interprets True Genetic test (procedure) Inferred relationship Some 1
Intron 22 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Intron 1 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic variant with alterations typically involving more than 50 base pairs. Interprets True Genetic test (procedure) Inferred relationship Some 1
A deletion typically less than 50 base pairs on a single locus. Interprets True Genetic test (procedure) Inferred relationship Some 1
An insertion typically less than 50 base pairs on a single locus. Interprets True Genetic test (procedure) Inferred relationship Some 1
Mutation of promoter (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
UTR (untranslated region) mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
ATP binding cassette subfamily G member 2 normal function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
ABCG2 poor function Interprets True Genetic test (procedure) Inferred relationship Some 1
ATP binding cassette subfamily G member 2 decreased function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Separate RhD positive and RhD negative subpopulations detected. Interprets True Genetic test (procedure) Inferred relationship Some 1
Phosphatase and tensin homolog gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Phosphatase and tensin homolog gene mutation not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *5/*5 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *5/*8 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *5/*11 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *8/*8 intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *8/*11 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *11/*11 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *5/*6 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *6/*6 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *6/*8 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *6/*11 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*5 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*11 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*8 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*6 intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Lynch syndrome gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Low risk variant of apolipoprotein L1 gene detected Interprets True Genetic test (procedure) Inferred relationship Some 1
High risk variant of apolipoprotein L1 gene detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to cardiovascular disorder (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1

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