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phecodekb's Introduction

PhecodeKbHtnHotn V2 includes chapters for two conditions (cn): hypertension (htn) and hypotension (hotn). Each chapter includes positive associations between phecodes and the condition. Negative associations, where one condition down modulates the other, are not represented except as they occur as positive associations in the chapter for the paired condition.

In aggregate, phecodes are assigned KB-status =1 if they have associations in the hypotension chapter and no association in the hypertension chapter, 3 for the reverse, and 4 if they have associations in both chapters.

Each chapter has sections for three sources: phecodeX taxonomy, literature review of epidemiology and the VanderbiltDDx knowledgebase. The design principles, provenance of the sources and population of the hypertension chapter were reported in Stead WW, Lewis A, Giuse, NB, Koonce, TY, Bastarache, L. Knowledgebase strategies to aid interpretation of clinical correlation research. J Am Med Inform Assoc. 2023;30:1257-1265. DOI: 10.1093/jamia/ocad078. PMID: 37164621 PMCID: PMC10280353. Extension of the structure to support paired chapters for conditions at opposite ends of a clinical spectrum is reported in a manuscript that is currently under review.

I – htn_hotn tab (aggregate knowledgebase pf positive associations with hypertension and/or hypotension)

Column label KB chapters Meaning of column label Values
phecode phecodeX v1
phecode_string phecode label
htn_hotn_kb Aggregate KB-status 0=none, 1=hypotension, 3=hypertension, 4=both
htn_hotn_p Aggregate Phecode tree association 0=none, 1=hypotension, 3=hypertension, 4=both
htn_hotn_l Aggregate Literature association 0=none, 1=hypotension, 3=hypertension, 4=both
htn_hotn_v Aggregate VDDxKB association 0=none, 1=hypotension, 3=hypertension, 4=both
htn_kb Hypertension Chapter status 0=none, 3=positive association
htn_p Hypertension Phecode tree association 0=none, 3=positive association
htn_l Hypertension Literature association 0=none, 3=positive association
htn_v Hypertension VDDxKB association 0=none, 3=positive association
hotn_kb Hypotension Chapter status 0=none, 3=positive association
hotn_p Hypotension Phecode tree association 0=none, 3=positive association
hotn_l Hypotension Literature association 0=none, 3=positive association
hotn_v Hypotension VDDxKB association 0=none, 3=positive association

  II – htn & hotn tabs (chapters hypertension and hypotension)

Column label KB chapters Meaning of column label Values
phecode phecodeX v1
phecode_string phecode label
cn_kb Aggregate Chapter status 3=positive association
cn_p Phecode tree Section status blank=none, 3=positive association
pt Phecode tree Type of association Blank=none, 1=pt_1, 4=multimap (1 trumps 4)
pt_1 Phecode tree phecode map includes ICD for condition Blank=none, 1=true
l_pt Phecode tree Literature association maps to ICD that multimaps to a phecode without a direct association Blank=none, 4=true
ltid_pt Phecode tree Litid for term associated with the multimap Blank=none, ltids delimited by “
v_pt Phecode tree VDDxKB association maps to ICD that multimaps to a phecode without a direct association Blank=none, 4=true
dxid_pt Phecode tree dxid for term associated with the multimap Blank=none, dxid delimited by “
cn_l Literature Section status blank=none, 3=positive association
l_cn_pc Literature Positive association from condition to phecode See cn_pc association type codes
l_pc_cn Literature Positive association from phecode to condition See pc_cn association type codes
l_mt Literature Literature term to phecode mapping type See mapping type table
ltid Literature Literature term ID 5 digit number (10001-99999)
cn_v VDDxKB Section status blank=none, 3=positive association
v_cn_pc VDDxKB Positive association from condition to phecode See cn_pc association type codes
v_pc_cn VDDxKB Positive association from phecode to condition See pc_cn association type codes
v_mt VDDxKB Diagnosis name to phecode mapping type See mapping type table
dxid VDDxKB Literature term ID 5 digit number (10000-19999)

cn - condition (e.g. htn or hotn)
pc - phecode

cn_pc & pc_cn association type codes: 0 none 2 co-occurrence /s clear cause & effect 3 system (part of constellation /s clear cause & effect) 4 risk factor 5 cause

Source term to phecode mapping types

mapping type Source ICD phecode coverage
1a 1 1 1 full
1b 1 >1 1 full
2a 1 1 1 phecode is subset of source
2b 1 >1 1 pheecode is subset of source
2c 1 >1 >1 phecode is subset of source
3a 1 1 1 source is a subset of phecode
3d 1 1 >1 source is a subset of phecode
3b 1 >1 1 source is a subset of phecode
3c 1 >1 >1 source is a subset of pheecode

III – htn_lit and hotn_lit tabs (literature association detail)

For each condition, the literature section structures the associations by classification, then by direction of the association (from condition to phecode (cn_pc), or the reverse (pc_cn)), and then by association type code.

Condition Classification # Short name Name
Hypertension 1001 hypertension Hypertension
Hypertension 1002 ish Isolated Systolic Hypertension
Hypotension 1003 oh Orthostatic hypotension
Hypotension 1004 d_sep_sh Distributive septic shock
Hypotension 1005 d_nsh_sh Distributive non-septic shock
Hypotension 1006 cardiac _sh Cardiac shock
Hypotension 1007 hypov_sh_nh Hypovolemic non-hemorrhagic shock
Hypotension 1008 hypov_sh_h Hypovolemic hemorrhagic shock
Hypotension 1009 obstructive_sh obstructive shock

Each tab includes 3 header rows, the 1st 2 are a human readable format, the 3rd has unique column names for computer processing. The column names in the following data dictionary refer to the 3rd row.

Column label Meaning of column label Values
phecode phecodeX v1 LL_### to LL_###.###
phecode_string phecode label text string
l_mt Mapping type for literature term to phecode See mapping type table
ltid Literature term ID 5 digit number (10001-99999)
l_term Literature term text string
cn_pc-classification# Positive association from condition/classification to phecode See cn_pc association type codes
pc_cn_classification# Positive association from phecode to classification/condition See pc_cn association type codes
Note: last two columns are paired and repeat for each classification of the condition

  IV – htn_vddx and hotn_vddx tabs (VDDxKB association detail) For each condition, the VDDxKB section structures the associations by diagnoses representing the condition, then by direction of the association (from condition to phecode (cn_pc), or the reverse (pc_cn)), and then by link type (LT) and frequency/evoking strength (FE). Manifestations of the association are represented alongside.

Diagnoses representing the condition

Condition cxid Diagnosis name
Hypertension 10157 Essential hypertension
Hypertension 10158 Malignant hypertension
Hypotension 10425 Hypovolemic shock
Hypotension 10474 Cardiogenic shock
Hypotension 10475 Pyrogenic shock
Hypotension 10505 Heat exhaution

Manifestations related to the conditions

Condition mxid Short name Expansion
Hypertension 21264 DBP 95-125
Hypertension 21265 DBP >125
Hypertension 21302 PP inc Increased Pulse pressure
Hypotension 21303 PP narrow Narrow pulse pressure
Hypotension 21268 Orthostatic Orthostatic drop on Physical Exam
Hypotension 21270 SBP 90-110
Hypotension 21271 SBP <90
Hypotension 23387 DBP <60
Hypertension 20431 Exacerbation Hx of recent exacerbation of Htn
Hypertension 21640 Abrupt onset Hx of abrupt onset of Htn
Hypertension 23454 Resistant to rx Htn resistant to treatment
Hypertension 21269 Paroxysmal Paroxysmal hypertension
Hypertension 23110 SBP arms > legs
Both 20229 Bradycardia
Both 21587 Tachycardia
Both 20102 Age 16-25
Both 20103 Age 26-55
Both 20104 Age >55
Both 21417 Birth female
Both 21418 Birth male

Each tab includes 3 header rows, the 1st 4 are a human readable format, the 5th has unique column names for computer processing. The column names in the following data dictionary refer to the 3rd row.

# Column label Meaning of column label Values
1 phecode phecodeX v1 LL_### to LL_###.###
2 phecode_string phecode label text string
3 v_mt Mapping type for diagnosis name to phecode See mapping type table
4 dxid Diagnosis ID # 5 digit number (10000-19999)
5 dxname Diagnosis name text string
6 p Prevalence 1-5
7 cn_pc_cxid_fe Frequency & evoking strength of cxid for dxid (and by map to phecode) 2 digit number, 1st is frequency (0-5), 2nd is evoking strength(0-5)
8 cn_pc_cxid_lt Link type of cxid for dxid (and by map to phecode) Letter (A=cause, D=risk fx, E=system)
9 pc_cn_cxid_fe Frequency & evoking strength of dxid (and by map to phecode) for cxid 2 digit number, 1st is frequency (0-5), 2nd is evoking strength(0-5)
10 pc_cn_cxid_lt Link type of dxid (and by map to phecode) for cxid Letter (A=cause, D=risk fx, E=system)
11 Xmxid_fe Frequency & evoking strength of mxid for dxid (and by map to phecode) 2 digit number, 1st is frequency (0-5), 2nd is evoking strength(0-5)
Note: lines 7-10 repeat for each cxid related to the condition
        Line 11 repeats for each mxid related to the condition

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