FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

234632005: Immunodeficiency associated with chromosomal abnormality (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
351567012 Immunodeficiency associated with chromosomal abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622978015 Immunodeficiency associated with chromosomal abnormality (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Immunodeficiency associated with chromosomal abnormality Is a Immunodeficiency with major anomalies false Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Finding site Structure of immune system (body structure) false Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Is a Primary immune deficiency disorder true Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Has definitional manifestation Immune system finding false Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Associated with Chromosomal disorder (disorder) true Inferred relationship Some 1
Immunodeficiency associated with chromosomal abnormality Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Chromosome 18 syndromes and antibody deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Chromosome 22 abnormalities with hypogammaglobulinaemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Deletion of X-chromosome and hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Triple X syndrome, epilepsy, and hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
18-p syndrome with associated immunodeficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Bloom syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked immunoneurologic disorder (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
FADD-related immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Neutrophil immunodeficiency syndrome (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
RAS-associated autoimmune leukoproliferative disease (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Sporadic Blau syndrome (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Idiopathic CD4 lymphocytopenia (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency (disorder) Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some

This concept is not in any reference sets

Back to Start