Generated Narrative with Details

id: obs-idh-ex

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: Genetic variation clinical significance [Imp] (Details : {LOINC code '53037-8' = 'Genetic variation clinical significance [Imp]', given as 'Genetic variation clinical significance [Imp]'})

value: Pathogenic (Details : {LOINC code 'LA6668-3' = 'Pathogenic', given as 'Pathogenic'})

derivedFrom: Generated Summary: id: SNVexample; Laboratory; Genetic variant assessment; Present; Sequencing

component

code: Associated phenotype (Details : {LOINC code '81259-4' = 'Associated phenotype', given as 'Associated phenotype'})

value: Cystic fibrosis (Details : {http://www.ncbi.nlm.nih.gov/medgen code 'C0010674' = 'C0010674', given as 'Cystic fibrosis'}; {http://www.orpha.net code 'ORPHA:586' = 'ORPHA:586; {http://www.omim.org code '219700' = '219700)

component

code: Associated phenotype (Details : {LOINC code '81259-4' = 'Associated phenotype', given as 'Associated phenotype'})

value: Congenital bilateral absence of the vas deferens (Details : {http://www.ncbi.nlm.nih.gov/medgen code 'C0403814' = 'C0403814; {http://www.orpha.net code 'ORPHA:48' = 'ORPHA:48; {http://www.omim.org code '277180' = '277180; {http://www.omim.org code '300985' = '300985)

component

code: mode-of-inheritance (Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'mode-of-inheritance' = 'mode-of-inheritance', given as 'mode-of-inheritance'})

value: Autosomal recessive (Details : {http://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns code 'Autosomal recessive' = 'Autosomal recessive', given as 'Autosomal recessive'})