RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Table of Contents

.. 0 Table of Contents
... 1 Home
... 2 Downloads
... 3 Artifacts Summary
.... 3.1 RareLink Condition for Undiagnosed RD Case
.... 3.2 RareLink Consent
.... 3.3 RareLink Diagnostic Implication Observation
.... 3.4 RareLink Encounter
.... 3.5 RareLink Family History
.... 3.6 RareLink Genetic Variant Observation
.... 3.7 RareLink IPS Condition
.... 3.8 RareLink IPS Measurement Laboratory
.... 3.9 RareLink IPS Measurement Radiology
.... 3.10 RareLink IPS Patient
.... 3.11 RareLink IPS Procedure
.... 3.12 RareLink Observation Age Category
.... 3.13 RareLink Observation Gestation at Birth
.... 3.14 RareLink Observation Karyotypic Sex
.... 3.15 RareLink Observation Measurements (Others)
.... 3.16 RareLink Observation Phenotypic Feature
.... 3.17 RareLink Vital Signs Measurements
.... 3.18 Age at Diagnosis
.... 3.19 Age at Onset
.... 3.20 Agreement to Be Contacted
.... 3.21 Birth Place
.... 3.22 Cause of Death
.... 3.23 Cause of Death Code
.... 3.24 Cause of Death Definition
.... 3.25 Cliical Modifier
.... 3.26 Cliical Modifier
.... 3.27 Cliical Modifier
.... 3.28 Consanguinity
.... 3.29 Consent to Reuse Data
.... 3.30 Date of Admission
.... 3.31 Phenotype Causing Organism
.... 3.32 Phenotype Severity
.... 3.33 Phenotype Status
.... 3.34 Phenotype Temporal Pattern
.... 3.35 Propositus
.... 3.36 Recorded Sex at Birth
.... 3.37 Resolution Date
.... 3.38 Vital Status
.... 3.39 Age at Diagnosis Value Set
.... 3.40 Age at Onset Value Set
.... 3.41 Age Category Value Set
.... 3.42 Age of Onset Value Set
.... 3.43 Agreement to Be Contacted Value Set (ERDRI-CDS)
.... 3.44 Clinical Significance Value Set
.... 3.45 Consanguinity Value Set
.... 3.46 Consent to Reuse Data Value Set (ERDRI-CDS)
.... 3.47 DNA Change Type Value Set
.... 3.48 Encounter Class Value Set
.... 3.49 Family Member Sex Value Set
.... 3.50 Family Relationship Value Set
.... 3.51 Genomic Source Class Value Set
.... 3.52 Karyotypic Sex Value Set
.... 3.53 Level of Evidence Value Set
.... 3.54 Phenotype Severity Value Set
.... 3.55 Phenotype Status Value Set
.... 3.56 Propositus Value Set
.... 3.57 Reference Genome Value Set
.... 3.58 Severity Value Set
.... 3.59 Sex at Birth Value Set
.... 3.60 Structural Variant Method Value Set
.... 3.61 Temporal Pattern Value Set
.... 3.62 Undiagnosed Rare Disease Case Value Set
.... 3.63 Vital Status Value Set
.... 3.64 Zygosity Value Set