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Immunodeficiencies

Kuan V, Denaxas S, Gonzalez-Izquierdo A, Direk K, Bhatti O, Husain S, Sutaria S, Hingorani M, Nitsch D, Parisinos C, Lumbers T, Mathur R, Sofat R, Casas JP, Wong I, Hemingway H, Hingorani A

ID
PH191
Version ID
382
Type
Disease or Syndrome
Valid event data range
01/01/1999 - 01/07/2016
Sex
♀  Female ♂  Male
Agreement Date
2019-05-20
Coding system
Read codes v2 ICD10 codes Med codes
Collections
CALIBER Phenotype Library
Tags
No tags

Definition

At the specified date, a patient is defined as having had 'Immunodeficiencies' IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:

Primary care

  1. 'Immunodeficiencies' diagnosis or history of diagnosis during a consultation

OR Secondary care (ICD10)

  1. ALL diagnoses of 'Immunodeficiencies' or history of diagnosis during a hospitalization

Implementation


Publications

  • Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3

Clinical Code List

Rows: 49
Code Description Disease Medcode Category
C390.00 Deficiencies of humoral immunity Immunodeficiencies 44147.0 Diagnosis of Immunodeficiencies
C390.11 Agammaglobulinaemia Immunodeficiencies 35682.0 Diagnosis of Immunodeficiencies
C390000 Hypogammaglobulinaemia NOS Immunodeficiencies 15137.0 Diagnosis of Immunodeficiencies
C390100 Selective IgA immunodeficiency Immunodeficiencies 8548.0 Diagnosis of Immunodeficiencies
C390200 Selective IgM immunodeficiency Immunodeficiencies 18701.0 Diagnosis of Immunodeficiencies
C390300 Selective IgG immunodeficiency Immunodeficiencies 18700.0 Diagnosis of Immunodeficiencies
C390400 Other selective immunoglobulin deficiency Immunodeficiencies 68440.0 Diagnosis of Immunodeficiencies
C390500 Congenital hypogammaglobulinaemia Immunodeficiencies 57161.0 Diagnosis of Immunodeficiencies
C390511 Bruton's agammaglobulinaemia Immunodeficiencies 65603.0 Diagnosis of Immunodeficiencies
C390512 Congenital X-linked agammaglobulinaemia Immunodeficiencies 60880.0 Diagnosis of Immunodeficiencies
C390600 Immunodeficiency with IgM hypergammaglobulinaemia Immunodeficiencies 69373.0 Diagnosis of Immunodeficiencies
C390700 Common variable immunodeficiency Immunodeficiencies 57322.0 Diagnosis of Immunodeficiencies
C390800 Transient infant hypogammaglobulinaemia Immunodeficiencies 92569.0 Diagnosis of Immunodeficiencies
C390900 Agammaglobulinaemia NEC Immunodeficiencies 62598.0 Diagnosis of Immunodeficiencies
C390A00 Dysimmunoglobulinaemia NEC Immunodeficiencies 69184.0 Diagnosis of Immunodeficiencies
C390A11 Dysgammaglobulinaemia NEC Immunodeficiencies 43653.0 Diagnosis of Immunodeficiencies
C390B00 Antibod def wth nr-norm imunoglob/or wth hyperimunoglobaemia Immunodeficiencies 60026.0 Diagnosis of Immunodeficiencies
C390y00 Other specified deficiency of humoral immunity Immunodeficiencies 69854.0 Diagnosis of Immunodeficiencies
C390z00 Deficiency of humoral immunity NOS Immunodeficiencies 16295.0 Diagnosis of Immunodeficiencies
C391.00 Deficiencies of cell-mediated immunity Immunodeficiencies 48307.0 Diagnosis of Immunodeficiencies
C391000 Predominantly T-cell immuno-deficiency NOS Immunodeficiencies 50665.0 Diagnosis of Immunodeficiencies
C391011 T-lymphocyte deficiency Immunodeficiencies 48035.0 Diagnosis of Immunodeficiencies
C391012 Cellular immunity syndrome Immunodeficiencies 60758.0 Diagnosis of Immunodeficiencies
C391100 Di George syndrome Immunodeficiencies 10955.0 Diagnosis of Immunodeficiencies
C391200 Wiskott - Aldrich syndrome Immunodeficiencies 31322.0 Diagnosis of Immunodeficiencies
C391211 Thrombocytopenic eczema with immunodeficiency Immunodeficiencies 42439.0 Diagnosis of Immunodeficiencies
C392.00 Combined immunity deficiency Immunodeficiencies 62236.0 Diagnosis of Immunodeficiencies
C392100 Severe combined immunodeficiency Immunodeficiencies 48293.0 Diagnosis of Immunodeficiencies
C392111 Swiss type agammaglobulinaemia Immunodeficiencies 94120.0 Diagnosis of Immunodeficiencies
C392300 Severe combined immunodefiency with reticular dysgenesis Immunodeficiencies 31541.0 Diagnosis of Immunodeficiencies
C392400 Severe combined immunodef with low T- and B-cell numbers Immunodeficiencies 66073.0 Diagnosis of Immunodeficiencies
C392500 Severe combined immunodef with low or normal B-cell numbers Immunodeficiencies 49542.0 Diagnosis of Immunodeficiencies
C392600 Adenosine deaminase deficiency Immunodeficiencies 72804.0 Diagnosis of Immunodeficiencies
C392700 Purine nucleoside phosphorylase deficiency Immunodeficiencies 93936.0 Diagnosis of Immunodeficiencies
C392800 Major histocompatibility complex class I deficiency Immunodeficiencies 50526.0 Diagnosis of Immunodeficiencies
C392900 Major histocompatibility complex class II deficiency Immunodeficiencies 103977.0 Diagnosis of Immunodeficiencies
C392z00 Combined immunity deficiency NOS Immunodeficiencies 62328.0 Diagnosis of Immunodeficiencies
C393.00 Unspecified immunity deficiency Immunodeficiencies 3129.0 Diagnosis of Immunodeficiencies
C395.00 Immunodeficiency with short-limbed stature Immunodeficiencies 65617.0 Diagnosis of Immunodeficiencies
C396.00 Immunodef follow hereditary defect respon Epstein-Barr vir Immunodeficiencies 56108.0 Diagnosis of Immunodeficiencies
C397.00 Hyperimmunoglobulin E syndrome Immunodeficiencies 54203.0 Diagnosis of Immunodeficiencies
C398.00 Common variable immunodeficiency Immunodeficiencies 21975.0 Diagnosis of Immunodeficiencies
C398000 Com var immunodef with predom abn B-cell numbers and functns Immunodeficiencies 93892.0 Diagnosis of Immunodeficiencies
C398200 Common variable immunodef wth autoantibod to B- or T-cells Immunodeficiencies 66857.0 Diagnosis of Immunodeficiencies
C39X.00 Immunodeficiency associated+major defect, unspecified Immunodeficiencies 39800.0 Diagnosis of Immunodeficiencies
C39y000 Lymphocyte function antigen-1 defect Immunodeficiencies 54904.0 Diagnosis of Immunodeficiencies
Cyu0000 [X]Other immunodeficiencies+predominantly antibody defects Immunodeficiencies 106788.0 Diagnosis of Immunodeficiencies
Cyu0400 [X]Other common variable immunodeficiencies Immunodeficiencies 73131.0 Diagnosis of Immunodeficiencies
Cyu0500 [X]Other specified immunodeficiency disorders Immunodeficiencies 66386.0 Diagnosis of Immunodeficiencies
Rows: 49
Code Description Disease ReadcodeDescr Readcode
103977.0 Diagnosis of Immunodeficiencies Immunodeficiencies Major histocompatibility complex class II deficiency C392900
106788.0 Diagnosis of Immunodeficiencies Immunodeficiencies [X]Other immunodeficiencies+predominantly antibody defects Cyu0000
10955.0 Diagnosis of Immunodeficiencies Immunodeficiencies Di George syndrome C391100
15137.0 Diagnosis of Immunodeficiencies Immunodeficiencies Hypogammaglobulinaemia NOS C390000
16295.0 Diagnosis of Immunodeficiencies Immunodeficiencies Deficiency of humoral immunity NOS C390z00
18700.0 Diagnosis of Immunodeficiencies Immunodeficiencies Selective IgG immunodeficiency C390300
18701.0 Diagnosis of Immunodeficiencies Immunodeficiencies Selective IgM immunodeficiency C390200
21975.0 Diagnosis of Immunodeficiencies Immunodeficiencies Common variable immunodeficiency C398.00
3129.0 Diagnosis of Immunodeficiencies Immunodeficiencies Unspecified immunity deficiency C393.00
31322.0 Diagnosis of Immunodeficiencies Immunodeficiencies Wiskott - Aldrich syndrome C391200
31541.0 Diagnosis of Immunodeficiencies Immunodeficiencies Severe combined immunodefiency with reticular dysgenesis C392300
35682.0 Diagnosis of Immunodeficiencies Immunodeficiencies Agammaglobulinaemia C390.11
39800.0 Diagnosis of Immunodeficiencies Immunodeficiencies Immunodeficiency associated+major defect, unspecified C39X.00
42439.0 Diagnosis of Immunodeficiencies Immunodeficiencies Thrombocytopenic eczema with immunodeficiency C391211
43653.0 Diagnosis of Immunodeficiencies Immunodeficiencies Dysgammaglobulinaemia NEC C390A11
44147.0 Diagnosis of Immunodeficiencies Immunodeficiencies Deficiencies of humoral immunity C390.00
48035.0 Diagnosis of Immunodeficiencies Immunodeficiencies T-lymphocyte deficiency C391011
48293.0 Diagnosis of Immunodeficiencies Immunodeficiencies Severe combined immunodeficiency C392100
48307.0 Diagnosis of Immunodeficiencies Immunodeficiencies Deficiencies of cell-mediated immunity C391.00
49542.0 Diagnosis of Immunodeficiencies Immunodeficiencies Severe combined immunodef with low or normal B-cell numbers C392500
50526.0 Diagnosis of Immunodeficiencies Immunodeficiencies Major histocompatibility complex class I deficiency C392800
50665.0 Diagnosis of Immunodeficiencies Immunodeficiencies Predominantly T-cell immuno-deficiency NOS C391000
54203.0 Diagnosis of Immunodeficiencies Immunodeficiencies Hyperimmunoglobulin E syndrome C397.00
54904.0 Diagnosis of Immunodeficiencies Immunodeficiencies Lymphocyte function antigen-1 defect C39y000
56108.0 Diagnosis of Immunodeficiencies Immunodeficiencies Immunodef follow hereditary defect respon Epstein-Barr vir C396.00
57161.0 Diagnosis of Immunodeficiencies Immunodeficiencies Congenital hypogammaglobulinaemia C390500
57322.0 Diagnosis of Immunodeficiencies Immunodeficiencies Common variable immunodeficiency C390700
60026.0 Diagnosis of Immunodeficiencies Immunodeficiencies Antibod def wth nr-norm imunoglob/or wth hyperimunoglobaemia C390B00
60758.0 Diagnosis of Immunodeficiencies Immunodeficiencies Cellular immunity syndrome C391012
60880.0 Diagnosis of Immunodeficiencies Immunodeficiencies Congenital X-linked agammaglobulinaemia C390512
62236.0 Diagnosis of Immunodeficiencies Immunodeficiencies Combined immunity deficiency C392.00
62328.0 Diagnosis of Immunodeficiencies Immunodeficiencies Combined immunity deficiency NOS C392z00
62598.0 Diagnosis of Immunodeficiencies Immunodeficiencies Agammaglobulinaemia NEC C390900
65603.0 Diagnosis of Immunodeficiencies Immunodeficiencies Bruton's agammaglobulinaemia C390511
65617.0 Diagnosis of Immunodeficiencies Immunodeficiencies Immunodeficiency with short-limbed stature C395.00
66073.0 Diagnosis of Immunodeficiencies Immunodeficiencies Severe combined immunodef with low T- and B-cell numbers C392400
66386.0 Diagnosis of Immunodeficiencies Immunodeficiencies [X]Other specified immunodeficiency disorders Cyu0500
66857.0 Diagnosis of Immunodeficiencies Immunodeficiencies Common variable immunodef wth autoantibod to B- or T-cells C398200
68440.0 Diagnosis of Immunodeficiencies Immunodeficiencies Other selective immunoglobulin deficiency C390400
69184.0 Diagnosis of Immunodeficiencies Immunodeficiencies Dysimmunoglobulinaemia NEC C390A00
69373.0 Diagnosis of Immunodeficiencies Immunodeficiencies Immunodeficiency with IgM hypergammaglobulinaemia C390600
69854.0 Diagnosis of Immunodeficiencies Immunodeficiencies Other specified deficiency of humoral immunity C390y00
72804.0 Diagnosis of Immunodeficiencies Immunodeficiencies Adenosine deaminase deficiency C392600
73131.0 Diagnosis of Immunodeficiencies Immunodeficiencies [X]Other common variable immunodeficiencies Cyu0400
8548.0 Diagnosis of Immunodeficiencies Immunodeficiencies Selective IgA immunodeficiency C390100
92569.0 Diagnosis of Immunodeficiencies Immunodeficiencies Transient infant hypogammaglobulinaemia C390800
93892.0 Diagnosis of Immunodeficiencies Immunodeficiencies Com var immunodef with predom abn B-cell numbers and functns C398000
93936.0 Diagnosis of Immunodeficiencies Immunodeficiencies Purine nucleoside phosphorylase deficiency C392700
94120.0 Diagnosis of Immunodeficiencies Immunodeficiencies Swiss type agammaglobulinaemia C392111
Rows: 7
Code Description Disease Category
D80 Immunodeficiency with predominantly antibody defects Immunodeficiencies Diagnosis of Immunodeficiencies
D81 Combined immunodeficiencies Immunodeficiencies Diagnosis of Immunodeficiencies
D82 Immunodeficiency associated with other major defects Immunodeficiencies Diagnosis of Immunodeficiencies
D83 Common variable immunodeficiency Immunodeficiencies Diagnosis of Immunodeficiencies
D84.0 Lymphocyte function antigen-1 [LFA-1] defect Immunodeficiencies Diagnosis of Immunodeficiencies
D84.8 Other specified immunodeficiencies Immunodeficiencies Diagnosis of Immunodeficiencies
D84.9 Immunodeficiency, unspecified Immunodeficiencies Diagnosis of Immunodeficiencies

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH191/version/382/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH191/version/382/detail/?format=json
R Package

# Download here

library(ConceptLibraryClient)


# Connect to API

client = connect_to_API(public=TRUE)


# Get details of phenotype

details = get_phenotype_detail_by_version('PH191', '382', api_client=client)

To Export Phenotype Code List:

Format API
XML site_root/api/v1/public/phenotypes/PH191/version/382/export/codes/?format=xml
JSON site_root/api/v1/public/phenotypes/PH191/version/382/export/codes/?format=json
CSV site_root/phenotypes/PH191/version/382/export/codes/
R Package

# Download here

library(ConceptLibraryClient)


# Connect to API

client = connect_to_API(public=TRUE)


# Get codelists of phenotype

codelists = get_phenotype_code_list('PH191', '382', api_client=client)

Version History

Version
ID
Name Owner Publish date
382 Immunodeficiencies ieuan.scanlon 2021-10-06 currently shown

Export - export all codes into a csv file/JSON/XML for the current phenotype version.

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