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61 change code systems for data model #66

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Sep 25, 2024
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23e2778
update
aslgraefe Sep 23, 2024
c95be7f
started phenopacketpipeline dev
aslgraefe Sep 23, 2024
7356192
update
aslgraefe Sep 23, 2024
fa6e86e
added template for function
aslgraefe Sep 23, 2024
ce40d6f
update
aslgraefe Sep 23, 2024
02a4d11
updated data dictionary
aslgraefe Sep 23, 2024
1d25206
edited init for imports
aslgraefe Sep 23, 2024
04ae032
updates
aslgraefe Sep 23, 2024
652d1fb
defined todos for phenoapcket pipeline
aslgraefe Sep 23, 2024
5aa455f
old test del
aslgraefe Sep 23, 2024
28ff69b
uncommented codesystems for test
aslgraefe Sep 23, 2024
0194966
edited import for resources
aslgraefe Sep 23, 2024
ad80f45
updated code systems . py with only versions
aslgraefe Sep 23, 2024
3669fd9
fixed bugs and added all column mappings
aslgraefe Sep 23, 2024
9b80550
added todo for preproccess redcap for phenopacket pipeline function
aslgraefe Sep 23, 2024
227ca62
typo
aslgraefe Sep 23, 2024
33787fd
fix init
aslgraefe Sep 23, 2024
8c7f9e1
fixed snomed import
aslgraefe Sep 23, 2024
0a4461b
fixed snomed_ct
aslgraefe Sep 23, 2024
5e6e8d2
fixed smomed ct
aslgraefe Sep 23, 2024
eeece88
added imports
aslgraefe Sep 23, 2024
7ac07ed
fixed import
aslgraefe Sep 23, 2024
d907c3d
fix def phenopacket pipeline
aslgraefe Sep 23, 2024
fe8a0fe
fiox
aslgraefe Sep 23, 2024
84555f2
typos
aslgraefe Sep 23, 2024
5732233
fix
aslgraefe Sep 23, 2024
a29c0e8
fix
aslgraefe Sep 23, 2024
c27d044
fix testing
aslgraefe Sep 23, 2024
a26fd09
updated copryright and authors
aslgraefe Sep 24, 2024
da4ee09
import rarelink cdm
aslgraefe Sep 24, 2024
6fe1d6d
added repetition of sections for data model
aslgraefe Sep 24, 2024
8520a59
fixed patient status not repetitive
aslgraefe Sep 24, 2024
033c242
update lining fix
aslgraefe Sep 24, 2024
b1ed9f4
fixed gene label
aslgraefe Sep 24, 2024
74a4626
added gene label vs
aslgraefe Sep 24, 2024
934dc0c
updated mapping
aslgraefe Sep 24, 2024
39b2572
new version phenopacket mapper
aslgraefe Sep 24, 2024
0adb25d
update pipeline
aslgraefe Sep 24, 2024
e55b3d4
fix indentation
aslgraefe Sep 24, 2024
d0e8ea3
fixed cdm repeating elements
aslgraefe Sep 24, 2024
988058f
edited disease single ones
aslgraefe Sep 24, 2024
f6273fe
updated genomic diagnosis double
aslgraefe Sep 24, 2024
576d700
addded repeating modifiers
aslgraefe Sep 24, 2024
eedf61e
added repeating to pipeline
aslgraefe Sep 24, 2024
9b5a31c
import s
aslgraefe Sep 24, 2024
fe12bef
fix
aslgraefe Sep 24, 2024
60373bc
fix
aslgraefe Sep 24, 2024
10e119c
updated pipeline
aslgraefe Sep 24, 2024
2e07306
update pipeline
aslgraefe Sep 24, 2024
d2f64a1
update init
aslgraefe Sep 24, 2024
cf82177
renamed file
aslgraefe Sep 24, 2024
c9bce58
updated import
aslgraefe Sep 24, 2024
9fd52c7
updated preprocessing value sets
aslgraefe Sep 24, 2024
2f3d7b9
updated name
aslgraefe Sep 24, 2024
53a7a7c
commented out
aslgraefe Sep 24, 2024
989be79
added TODO in pipeliine
aslgraefe Sep 24, 2024
610f118
added another TODO
aslgraefe Sep 24, 2024
c4e13b8
import phenopackets and fix
aslgraefe Sep 25, 2024
07328ea
updated diseasses and ph features
aslgraefe Sep 25, 2024
d64ba09
uncommenteed for now
aslgraefe Sep 25, 2024
11c3323
update zygosity function
aslgraefe Sep 25, 2024
dfe3e56
added functions and import
aslgraefe Sep 25, 2024
00713dc
updates
aslgraefe Sep 25, 2024
6a6defd
addedd class multiple_fields
aslgraefe Sep 25, 2024
db1e469
added multiple field sclass
aslgraefe Sep 25, 2024
b629ce6
added rarelink_cdm_phenopacket_mapping function
aslgraefe Sep 25, 2024
b34ea91
update
aslgraefe Sep 25, 2024
5dc8ac9
edits
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11d7ce6
edit
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edit
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57aa8e2
fix
aslgraefe Sep 25, 2024
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edot
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edit
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76a8b81
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fix
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fix
aslgraefe Sep 25, 2024
c16751d
fixes
aslgraefe Sep 25, 2024
0a8f4b8
fix
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8b1b060
fix
aslgraefe Sep 25, 2024
0fa330a
fix
aslgraefe Sep 25, 2024
f219fa2
clean up
aslgraefe Sep 25, 2024
7563964
change function
aslgraefe Sep 25, 2024
9c4c607
fix
aslgraefe Sep 25, 2024
91de67b
changed name back
aslgraefe Sep 25, 2024
f182335
fix
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05d7b3a
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3d43852
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af7a6a0
try
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4a516f8
fix
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bb0e950
updates
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e00dcbc
added and edited 5 test patients
aslgraefe Sep 25, 2024
2ed3a94
updated test data
aslgraefe Sep 25, 2024
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updated code systems . py with only versions
aslgraefe committed Sep 23, 2024
commit ad80f45c73fefb6ce24ec5f425b5fc7ebd935614
172 changes: 55 additions & 117 deletions src/rarelink/rarelink_cdm/rarelink_cdm_codesystems.py
Original file line number Diff line number Diff line change
@@ -1,126 +1,64 @@
from phenopacket_mapper.data_standards.code import CodeSystem
from phenopacket_mapper.data_standards.code_system import NCBITaxon, GENO, SO, ICD10CM, SNOMED, ICD11, HL7FHIR, GA4GH, ISO3166, ICF, MONDO, ORDO, OMIM, LOINC, HGVS, HGNC, HPO


class RareLink_CDM_v2_0_0_CodeSystems:
class RareLink_CDM_v2_0_0_Resources:
"""
This class is a container for the code systems used in the
RareLink CDM v2.0.0.
__version__ = '2.0.0'
"""
NCBITaxon = CodeSystem(
name='NCBI organismal classification',
namespace_prefix='ncbitaxon',
url='https://www.ncbi.nlm.nih.gov/taxonomy',
version="2024-07-03"
)

GENO = CodeSystem(
name='GENO: The Genotype Ontology',
namespace_prefix='geno',
url='http://www.genoontology.org/',
version="2023-10-08"
)

SO = CodeSystem(
name='Sequence Ontology (SO)',
namespace_prefix='so',
url='http://www.sequenceontology.org/',
version="2.6"
)

ICD10CM = CodeSystem(
name='ICD-10-CM',
namespace_prefix='icd10cm',
url='https://www.cdc.gov/nchs/icd/icd10cm.htm',
version="2024-09-01"
)

SNOMED = CodeSystem(
name='SNOMED CT',
namespace_prefix='snomed',
url='https://www.snomed.org/snomed-ct',
version="2024-09-01"
)

ICD11 = CodeSystem(
name='ICD-11',
namespace_prefix='icd11',
url='https://icd.who.int/en',
version="2024-09-01"
)

HL7FHIR = CodeSystem(
name='HL7 FHIR',
namespace_prefix='hl7fhir',
url='https://www.hl7.org/fhir/',
version="v4.0.1"
)

GA4GH = CodeSystem(
name='Global Alliance for Genomics and Health - Phenopacket Schema',
namespace_prefix='ga4gh',
url='https://www.ga4gh.org/',
version="v2.0"
)

ISO3166 = CodeSystem(
name='ISO 3166-1:2020(en) alpha-2 and alpha-3 country codes',
namespace_prefix='iso3166',
url='https://www.iso.org/iso-3166-country-codes.html',
version="2020(en)"
)

ICF = CodeSystem(
name='International Classification of Functioning, Disability and Health (ICF)',
namespace_prefix='icf',
url='https://www.who.int/classifications/icf/en/',
version="1.0.2"
)
MONDO = CodeSystem(
name="Monarch Disease Ontology",
namespace_prefix="MONDO",
url="http://purl.obolibrary.org/obo/mondo.owl",
version="2024-09-03"
)
ORDO = CodeSystem(
name="Orphanet",
namespace_prefix="Orphanet Rare Disease Ontology",
url="http://www.orpha.net/",
version="2024-09-12"
)
OMIM = CodeSystem(
name="Online Mendelian Inheritance",
namespace_prefix="OMIM",
url="https://omim.org/",
version="2024-09-12"
)
LOINC = CodeSystem(
name="Logical Observation Identifiers Names and Codes",
namespace_prefix="LOINC",
url="https://loinc.org/",
version="2.78"
)
HGVS = CodeSystem(
name="Human Genome Variation Society",
namespace_prefix="HGVS",
url="http://varnomen.hgvs.org/",
version="21.0.0"
)
HGNC = CodeSystem(
name="HUGO Gene Nomenclature Committee",
namespace_prefix="HGNC",
url="https://www.genenames.org/",
version="2024-08-23"
)
HPO = CodeSystem(
name="Human Phenotype Ontology",
namespace_prefix="HP",
url="http://www.human-phenotype-ontology.org",
iri_prefix="http://purl.obolibrary.org/obo/HP_",
synonyms=["HPO"],
version="2024-08-13"
)


rarelink_cdm_v2_0_0_codesystems = RareLink_CDM_v2_0_0_CodeSystems()
@property
def NCBITaxon(self):
return NCBITaxon.set_version("2024-07-03")
def GENO(self):
return GENO.set_version("2023-10-08")

def SO(self):
return SO.set_version("2.6")

def ICD10CM(self):
return ICD10CM.set_version("2024-09-01")

def SNOMED(self):
return SNOMED.set_version("2024-09-01")

def ICD11(self):
return ICD11.set_version("2024-09-01")

def HL7FHIR(self):
return HL7FHIR.set_version("v4.0.1")

def GA4GH(self):
return GA4GH.set_version("v2.0")

def ISO3166(self):
return ISO3166.set_version("2020(en)")

def ICF(self):
return ICF.set_version("1.0.2")

def MONDO(self):
return MONDO.set_version("2024-09-03")

def ORDO(self):
return ORDO.set_version("2024-09-12")

def OMIM(self):
return OMIM.set_version("2024-09-12")

def LOINC(self):
return LOINC.set_version("2.78")

def HGVS(self):
return HGVS.set_version("21.0.0")

def HGNC(self):
return HGNC.set_version("2024-08-23")

def HPO(self):
return HPO.set_version("2024-08-13")


RARELINK_CDM_V2_0_0_RESOURCES = RareLink_CDM_v2_0_0_Resources()