{"id":402215,"date":"2024-10-20T05:00:07","date_gmt":"2024-10-20T05:00:07","guid":{"rendered":"https:\/\/pdfstandards.shop\/product\/uncategorized\/bs-iso-44542022\/"},"modified":"2024-10-26T08:52:51","modified_gmt":"2024-10-26T08:52:51","slug":"bs-iso-44542022","status":"publish","type":"product","link":"https:\/\/pdfstandards.shop\/product\/publishers\/bsi\/bs-iso-44542022\/","title":{"rendered":"BS ISO 4454:2022"},"content":{"rendered":"
PDF Pages<\/th>\n | PDF Title<\/th>\n<\/tr>\n | ||||||
---|---|---|---|---|---|---|---|
2<\/td>\n | undefined <\/td>\n<\/tr>\n | ||||||
10<\/td>\n | Foreword <\/td>\n<\/tr>\n | ||||||
11<\/td>\n | Introduction <\/td>\n<\/tr>\n | ||||||
13<\/td>\n | 1 Scope 2 Normative references 3 Terms and definitions <\/td>\n<\/tr>\n | ||||||
16<\/td>\n | 4 Abbreviated terms <\/td>\n<\/tr>\n | ||||||
17<\/td>\n | 5 Phenopackets Schema and Requirements 5.1 Phenopacket Schema <\/td>\n<\/tr>\n | ||||||
23<\/td>\n | 5.2 Requirement Levels 5.2.1 General 5.2.2 Multiplicity <\/td>\n<\/tr>\n | ||||||
24<\/td>\n | 5.3 Ontology Use 6 Phenopacket Schema Top-Level Elements 6.1 Phenopacket 6.1.1 General 6.1.2 id 6.1.3 subject <\/td>\n<\/tr>\n | ||||||
25<\/td>\n | 6.1.4 phenotypic_features 6.1.5 measurements 6.1.6 biosamples 6.1.7 interpretation 6.1.8 diseases 6.1.9 medical_actions 6.1.10 files 6.1.11 meta_data 6.2 Family 6.2.1 General <\/td>\n<\/tr>\n | ||||||
26<\/td>\n | 6.2.2 id 6.2.3 proband 6.2.4 relatives 6.2.5 pedigree 6.2.6 files 6.2.7 meta_data <\/td>\n<\/tr>\n | ||||||
27<\/td>\n | 6.3 Cohort 6.3.1 General 6.3.2 id 6.3.3 description 6.3.4 members 6.3.5 files 6.3.6 meta_data 7 Phenopackets Building Blocks 7.1 General <\/td>\n<\/tr>\n | ||||||
28<\/td>\n | 7.2 Age 7.3 AgeRange 7.4 Biosample 7.4.1 General <\/td>\n<\/tr>\n | ||||||
30<\/td>\n | 7.4.2 id 7.4.3 individual_id 7.4.4 derived_from_id 7.4.5 description 7.4.6 sampled_tissue 7.4.7 sample_type 7.4.8 phenotypic_features 7.4.9 measurements <\/td>\n<\/tr>\n | ||||||
31<\/td>\n | 7.4.10 taxonomy 7.4.11 time_at_collection 7.4.12 histological_diagnosis 7.4.13 tumor_progression 7.4.14 tumor_grade 7.4.15 pathological_stage 7.4.16 pathological_tnm_finding 7.4.17 diagnostic_markers 7.4.18 procedure 7.4.19 files <\/td>\n<\/tr>\n | ||||||
32<\/td>\n | 7.4.20 material_sample 7.4.21 sample_processing 7.4.22 sample_storage 7.5 ComplexValue 7.5.1 General 7.5.2 typed_quantities <\/td>\n<\/tr>\n | ||||||
33<\/td>\n | 7.6 Disease 7.6.1 General 7.6.2 term 7.6.3 excluded <\/td>\n<\/tr>\n | ||||||
34<\/td>\n | 7.6.4 onset 7.6.5 resolution 7.6.6 disease_stage 7.6.7 clinical_tnm_finding 7.6.8 primary_site 7.6.9 laterality 7.7 DoseInterval 7.7.1 General <\/td>\n<\/tr>\n | ||||||
35<\/td>\n | 7.7.2 quantity 7.7.3 schedule_frequency 7.7.4 interval 7.8 DrugType 7.8.1 General <\/td>\n<\/tr>\n | ||||||
36<\/td>\n | 7.9 Evidence 7.9.1 General 7.9.2 evidence_code 7.9.3 Reference 7.10 ExternalReference 7.10.1 General <\/td>\n<\/tr>\n | ||||||
37<\/td>\n | 7.10.2 id 7.10.3 reference 7.10.4 description 7.11 File 7.11.1 General <\/td>\n<\/tr>\n | ||||||
38<\/td>\n | 7.11.2 uri 7.11.3 individual_to_file_identifiers 7.11.4 file_attributes 7.12 GeneDescriptor 7.12.1 General <\/td>\n<\/tr>\n | ||||||
39<\/td>\n | 7.12.2 value_id <\/td>\n<\/tr>\n | ||||||
40<\/td>\n | 7.12.3 symbol 7.12.4 description 7.12.5 alternate_ids 7.12.6 alternate_symbols 7.12.7 xrefs 7.13 GenomicInterpretation 7.13.1 General <\/td>\n<\/tr>\n | ||||||
41<\/td>\n | 7.13.2 subject_or_biosample_id 7.13.3 interpretation_status 7.13.4 call 7.14 GestationalAge 7.14.1 General <\/td>\n<\/tr>\n | ||||||
42<\/td>\n | 7.15 Individual 7.15.1 General 7.15.2 id <\/td>\n<\/tr>\n | ||||||
43<\/td>\n | 7.15.3 alternate_ids 7.15.4 date_of_birth 7.15.5 time_at_last_encounter <\/td>\n<\/tr>\n | ||||||
44<\/td>\n | 7.15.6 vital_status 7.15.7 sex 7.15.8 karyotypic_sex 7.15.9 gender 7.15.10 taxonomy 7.16 Interpretation 7.16.1 General <\/td>\n<\/tr>\n | ||||||
45<\/td>\n | 7.16.2 id 7.16.3 progress_status <\/td>\n<\/tr>\n | ||||||
46<\/td>\n | 7.16.4 diagnosis 7.16.5 summary 7.17 KaryotypicSex <\/td>\n<\/tr>\n | ||||||
47<\/td>\n | 7.18 Measurement 7.18.1 General <\/td>\n<\/tr>\n | ||||||
48<\/td>\n | 7.18.2 description 7.18.3 assay 7.18.4 value 7.18.5 time_observed 7.18.6 procedure 7.19 MedicalAction 7.19.1 General <\/td>\n<\/tr>\n | ||||||
49<\/td>\n | 7.19.2 action 7.19.3 treatment_target 7.19.4 treatment_intent 7.19.5 response_to_treatment 7.19.6 adverse_events 7.19.7 treatment_termination_reason 7.20 MetaData 7.20.1 General <\/td>\n<\/tr>\n | ||||||
50<\/td>\n | 7.20.2 created 7.20.3 created_by 7.20.4 submitted_by 7.20.5 resources <\/td>\n<\/tr>\n | ||||||
51<\/td>\n | 7.20.6 updates 7.20.7 phenopacket_schema_version 7.20.8 external_references 7.21 OntologyClass 7.21.1 General 7.21.2 id 7.21.3 label <\/td>\n<\/tr>\n | ||||||
52<\/td>\n | 7.22 Pedigree 7.22.1 General 7.22.2 persons <\/td>\n<\/tr>\n | ||||||
54<\/td>\n | 7.23 PhenotypicFeature 7.23.1 General 7.23.2 description 7.23.3 type <\/td>\n<\/tr>\n | ||||||
55<\/td>\n | 7.23.4 excluded 7.23.5 severity 7.23.6 modifiers 7.23.7 onset 7.23.8 resolution 7.23.9 evidence 7.24 Procedure 7.24.1 General <\/td>\n<\/tr>\n | ||||||
56<\/td>\n | 7.24.2 code 7.24.3 body site 7.24.4 performed 7.25 Quantity 7.25.1 General <\/td>\n<\/tr>\n | ||||||
57<\/td>\n | 7.25.2 unit 7.25.3 value 7.25.4 reference_range 7.26 RadiationTherapy 7.26.1 General 7.26.2 modality 7.26.3 body_site <\/td>\n<\/tr>\n | ||||||
58<\/td>\n | 7.26.4 dosage 7.26.5 fractions 7.27 ReferenceRange 7.27.1 General 7.27.2 unit 7.27.3 low 7.27.4 high 7.28 Resource 7.28.1 General <\/td>\n<\/tr>\n | ||||||
59<\/td>\n | 7.28.2 id <\/td>\n<\/tr>\n | ||||||
60<\/td>\n | 7.28.3 name 7.28.4 url 7.28.5 version 7.28.6 namespace_prefix 7.28.7 iriPrefix 7.28.8 CURIE <\/td>\n<\/tr>\n | ||||||
61<\/td>\n | 7.28.9 Identifier resolution 7.29 Sex 7.30 TherapeuticRegimen 7.30.1 General <\/td>\n<\/tr>\n | ||||||
62<\/td>\n | 7.30.2 identifier 7.30.3 start_time 7.30.4 end_time 7.30.5 regimen_status 7.31 TimeElement 7.31.1 General <\/td>\n<\/tr>\n | ||||||
63<\/td>\n | 7.31.2 gestational_age 7.31.3 age 7.31.4 age_range 7.31.5 ontology_class 7.31.6 timestamp 7.31.7 interval 7.32 TimeInterval 7.32.1 General <\/td>\n<\/tr>\n | ||||||
64<\/td>\n | 7.32.2 start 7.32.3 end 7.33 Timestamp 7.34 Treatment 7.34.1 General <\/td>\n<\/tr>\n | ||||||
66<\/td>\n | 7.34.2 agent 7.34.3 route_of_administration 7.34.4 dose_intervals 7.34.5 drug_type 7.34.6 cumulative_dose 7.35 Update 7.35.1 General <\/td>\n<\/tr>\n | ||||||
67<\/td>\n | 7.35.2 timestamp 7.35.3 updated_by 7.35.4 comment 7.36 Value 7.36.1 General 7.36.2 value 7.37 VariationDescriptor 7.37.1 General <\/td>\n<\/tr>\n | ||||||
70<\/td>\n | 7.37.2 id 7.37.3 variation 7.37.4 label 7.37.5 description 7.37.6 gene_context 7.37.7 expression 7.37.8 vcf_record <\/td>\n<\/tr>\n | ||||||
71<\/td>\n | 7.37.9 xrefs 7.37.10 alternate_labels 7.37.11 extensions 7.37.12 molecule_context 7.37.13 structural_type <\/td>\n<\/tr>\n | ||||||
72<\/td>\n | 7.37.14 vrs_ref_allele_seq 7.37.15 allelic_state 7.38 VariantInterpretation 7.38.1 General 7.38.2 acmg_pathogenicity_classification <\/td>\n<\/tr>\n | ||||||
73<\/td>\n | 7.38.3 therapeutic_actionability 7.38.4 variant 7.39 VitalStatus 7.39.1 General 7.39.2 status <\/td>\n<\/tr>\n | ||||||
74<\/td>\n | 7.39.3 time_of_death 7.39.4 cause_of_death 7.39.5 survival_time_in_days <\/td>\n<\/tr>\n | ||||||
75<\/td>\n | Annex A (informative) Working with Phenopackets <\/td>\n<\/tr>\n | ||||||
83<\/td>\n | Annex B (informative) Ontologies <\/td>\n<\/tr>\n | ||||||
86<\/td>\n | Annex C (informative) Rare Disease Example <\/td>\n<\/tr>\n | ||||||
89<\/td>\n | Annex D (informative) Cancer Example <\/td>\n<\/tr>\n | ||||||
93<\/td>\n | Annex E (informative) COVID-19 Example <\/td>\n<\/tr>\n | ||||||
98<\/td>\n | Bibliography <\/td>\n<\/tr>\n<\/table>\n","protected":false},"excerpt":{"rendered":" Genomics informatics. Phenopackets: A format for phenotypic data exchange<\/b><\/p>\n |