Abnormal Lab
Fasting_Glucose_ABNORMAL OR Random_Glucose_ABNORMAL OR HBA1c_ABNORMAL
YES
Code_System
A combined phenotype is a combination of corresponding single phenotypes (e.g., a combination of height and weight).
Combined_Phenotype
We define composite phenotypes as composite properties (e.g., combination of height and weight, BMI, SOFA score) of an organism or of one of its subsystems. A composite property is defined as a property that has single properties as parts.
Composite_Phenotype
1
A derived phenotype is an additional property (e.g., BMI) derived from the corresponding phenotypes (e.g., height and weight).
Derived_Phenotype
decimal
Fasting Glucose
mg/dl
6
RTObservation
125
decimal
SOME Fasting Glucose >= 125 mg/dl
ABNORMAL
decimal
Hemoglobin A1c
%
8
RTObservation
6.5
decimal
SOME Hemoglobin A1c >= 6.5 %
ABNORMAL
Missing_Value_Phenotype_Class
Non_restricted_Combined_Phenotype_Class
Non_restricted_Derived_Phenotype_Class
The extension (set of instances) of a non-restricted phenotype class is not restricted to a certain range of individual phenotypes, all instances are allowed. For example, the phenotype class âageâ instantiated by the ages of all living beings is non-restricted.
Non_restricted_Phenotype_Class
Non_restricted_Single_Phenotype_Class
We consider a phenotype as a dependent individual (in sense of General Formal Ontology, GFO), for example, the weight of a specific person. Hereinafter, abstract instantiable entities that are instantiated by phenotypes are called phenotype classes. For instance, the abstract property âweightâ possesses individual weights as instances.
Phenotype
Phenotype_Category
Abstract instantiable entities that are instantiated by phenotypes are called phenotype classes.
Phenotype_Class
decimal
Random Glucose
mg/dl
7
RTObservation
200
decimal
SOME Random Glucose > 200 mg/dl
ABNORMAL
Restricted_Combined_Phenotype_Class
Restricted_Derived_Phenotype_Class
The extension (set of instances) of a restricted phenotype class is restricted to a certain range of individual phenotypes by defined conditions. For example, the phenotype class âyoung ageâ instantiated by the ages of the young living beings (e.g., if the age is below 30 years) is restricted. A restricted phenotype class is a subclass of a non-restricted phenotype class (e.g., âyoung ageâ is subclass of 'age').
Restricted_Phenotype_Class
Restricted_Single_Phenotype_Class
We define single phenotypes as single properties (e.g., age, weight, height) of an organism or of one of its subsystems.
Single_Phenotype
Single_Phenotype_Group
decimal
COUNT
T1DM Diagnosis
1
RTCondition
0
decimal
SOME T1DM Diagnosis = 0
NO
2
0
decimal
SOME T1DM Diagnosis > 0
YES
1
decimal
FIRST
T1DM Medication
3
RTMedicationStatement
T1DM Medication = MISSING VALUE
NO
1
decimal
SOME T1DM Medication = 1
YES
T2DM_CAT
true
T2DM Case
T1DM_Diagnosis_NO AND T2DM_Diagnosis_YES AND T1DM_Medication_YES AND T2DM_Medication_YES AND T2DM_precedes_T1DM_Medication_YES
T2DM Case 1
1
T1DM_Diagnosis_NO AND T2DM_Diagnosis_YES AND T1DM_Medication_NO AND T2DM_Medication_YES
T2DM Case 2
2
T1DM_Diagnosis_NO AND T2DM_Diagnosis_YES AND T1DM_Medication_NO AND T2DM_Medication_NO AND Abnormal_Lab_YES
T2DM Case 3
3
T1DM_Diagnosis_NO AND T2DM_Diagnosis_NO AND T2DM_Medication_YES AND Abnormal_Lab_YES
T2DM Case 4
4
T1DM_Diagnosis_NO AND T2DM_Diagnosis_YES AND T1DM_Medication_YES AND T2DM_Medication_NO AND T2DM_Diagnosis_by_Physician_YES
T2DM Case 5
5
decimal
COUNT
T2DM Diagnosis
2
RTCondition
0
decimal
SOME T2DM Diagnosis = 0
NO
2
0
decimal
SOME T2DM Diagnosis > 0
YES
1
decimal
COUNT
T2DM Diagnosis by Physician
5
RTClinicalImpression
2
decimal
SOME T2DM Diagnosis by Physician >= 2
>= 2
decimal
FIRST
T2DM Medication
4
RTMedicationStatement
T2DM Medication = MISSING VALUE
NO
1
decimal
SOME T2DM Medication = 1
YES
decimal
GT($T1DM_Medication, $T2DM_Medication)
T2DM precedes T1DM Medication
0
decimal
SOME T2DM precedes T1DM Medication > 0
YES
ICD-9-CM
http://hl7.org/fhir/sid/icd-9-cm
250.00
http://hl7.org/fhir/sid/icd-9-cm|250.00
250.01
http://hl7.org/fhir/sid/icd-9-cm|250.01
250.02
http://hl7.org/fhir/sid/icd-9-cm|250.02
250.03
http://hl7.org/fhir/sid/icd-9-cm|250.03
250.11
http://hl7.org/fhir/sid/icd-9-cm|250.11
250.13
http://hl7.org/fhir/sid/icd-9-cm|250.13
250.20
http://hl7.org/fhir/sid/icd-9-cm|250.20
250.21
http://hl7.org/fhir/sid/icd-9-cm|250.21
250.22
http://hl7.org/fhir/sid/icd-9-cm|250.22
250.23
http://hl7.org/fhir/sid/icd-9-cm|250.23
250.30
http://hl7.org/fhir/sid/icd-9-cm|250.30
250.31
http://hl7.org/fhir/sid/icd-9-cm|250.31
250.32
http://hl7.org/fhir/sid/icd-9-cm|250.32
250.33
http://hl7.org/fhir/sid/icd-9-cm|250.33
250.40
http://hl7.org/fhir/sid/icd-9-cm|250.40
250.41
http://hl7.org/fhir/sid/icd-9-cm|250.41
250.42
http://hl7.org/fhir/sid/icd-9-cm|250.42
250.43
http://hl7.org/fhir/sid/icd-9-cm|250.43
250.50
http://hl7.org/fhir/sid/icd-9-cm|250.50
250.51
http://hl7.org/fhir/sid/icd-9-cm|250.51
250.52
http://hl7.org/fhir/sid/icd-9-cm|250.52
250.53
http://hl7.org/fhir/sid/icd-9-cm|250.53
250.60
http://hl7.org/fhir/sid/icd-9-cm|250.60
250.61
http://hl7.org/fhir/sid/icd-9-cm|250.61
250.62
http://hl7.org/fhir/sid/icd-9-cm|250.62
250.63
http://hl7.org/fhir/sid/icd-9-cm|250.63
250.70
http://hl7.org/fhir/sid/icd-9-cm|250.70
250.71
http://hl7.org/fhir/sid/icd-9-cm|250.71
250.72
http://hl7.org/fhir/sid/icd-9-cm|250.72
250.73
http://hl7.org/fhir/sid/icd-9-cm|250.73
250.80
http://hl7.org/fhir/sid/icd-9-cm|250.80
250.81
http://hl7.org/fhir/sid/icd-9-cm|250.81
250.82
http://hl7.org/fhir/sid/icd-9-cm|250.82
250.83
http://hl7.org/fhir/sid/icd-9-cm|250.83
250.90
http://hl7.org/fhir/sid/icd-9-cm|250.90
250.91
http://hl7.org/fhir/sid/icd-9-cm|250.91
250.92
http://hl7.org/fhir/sid/icd-9-cm|250.92
250.93
http://hl7.org/fhir/sid/icd-9-cm|250.93
LOINC
http://loinc.org
1558-6
http://loinc.org|1558-6
17855-8
http://loinc.org|17855-8
17856-6
http://loinc.org|17856-6
2339-0
http://loinc.org|2339-0
2345-7
http://loinc.org|2345-7
4548-4
http://loinc.org|4548-4
4549-2
http://loinc.org|4549-2
RxNorm
http://www.nlm.nih.gov/research/umls/rxnorm
10633
http://www.nlm.nih.gov/research/umls/rxnorm|10633
139825
http://www.nlm.nih.gov/research/umls/rxnorm|139825
139953
http://www.nlm.nih.gov/research/umls/rxnorm|139953
16681
http://www.nlm.nih.gov/research/umls/rxnorm|16681
173
http://www.nlm.nih.gov/research/umls/rxnorm|173
217360
http://www.nlm.nih.gov/research/umls/rxnorm|217360
2404
http://www.nlm.nih.gov/research/umls/rxnorm|2404
25789
http://www.nlm.nih.gov/research/umls/rxnorm|25789
274332
http://www.nlm.nih.gov/research/umls/rxnorm|274332
274783
http://www.nlm.nih.gov/research/umls/rxnorm|274783
30009
http://www.nlm.nih.gov/research/umls/rxnorm|30009
314684
http://www.nlm.nih.gov/research/umls/rxnorm|314684
33738
http://www.nlm.nih.gov/research/umls/rxnorm|33738
352385
http://www.nlm.nih.gov/research/umls/rxnorm|352385
400008
http://www.nlm.nih.gov/research/umls/rxnorm|400008
4815
http://www.nlm.nih.gov/research/umls/rxnorm|4815
4821
http://www.nlm.nih.gov/research/umls/rxnorm|4821
51428
http://www.nlm.nih.gov/research/umls/rxnorm|51428
5856
http://www.nlm.nih.gov/research/umls/rxnorm|5856
593411
http://www.nlm.nih.gov/research/umls/rxnorm|593411
60548
http://www.nlm.nih.gov/research/umls/rxnorm|60548
6809
http://www.nlm.nih.gov/research/umls/rxnorm|6809
72610
http://www.nlm.nih.gov/research/umls/rxnorm|72610
73044
http://www.nlm.nih.gov/research/umls/rxnorm|73044
84108
http://www.nlm.nih.gov/research/umls/rxnorm|84108
86009
http://www.nlm.nih.gov/research/umls/rxnorm|86009
T2DM case selection algorithm
https://www.smith.care/phenoman/t2dm_case_selection_algorithm
t2dm_case_1
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_1
t2dm_case_2
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_2
t2dm_case_3
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_3
t2dm_case_4
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_4
t2dm_case_5
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_5
t2dm_case_calculated
https://www.smith.care/phenoman/t2dm_case_selection_algorithm|t2dm_case_calculated