FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  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

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Immunodeficiency associated with chromosomal abnormality Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Immunodeficiency associated with chromosomal abnormality est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality associé à (attribut) anomalie chromosomique true Inferred relationship Some 1
Immunodeficiency associated with chromosomal abnormality est un(e) (attribut) Immunodeficiency with major anomalies false Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality localisation d'une constatation (attribut) structure du système immunitaire false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de Bloom (trouble) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Chromosome 18 syndromes and antibody deficiency est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Chromosome 22 abnormalities with hypogammaglobulinaemia est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Deletion of X-chromosome and hypogammaglobulinemia est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Microcephaly, normal intelligence and immunodeficiency est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Triple X syndrome, epilepsy, and hypogammaglobulinemia est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Immunodeficiency associated with 18p syndrome est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
syndrome immuno-neurologique lié à l'X est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
FADD-related immunodeficiency est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) est un(e) (attribut) 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) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Neutrophil immunodeficiency syndrome (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
RAS-associated autoimmune leukoproliferative disease (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) 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) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) est un(e) (attribut) 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) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Sporadic Blau syndrome (disorder) est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Idiopathic CD4 lymphocytopenia (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency (disorder) est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) True Immunodeficiency associated with chromosomal abnormality Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation est un(e) (attribut) False Immunodeficiency associated with chromosomal abnormality Inferred relationship Some

This concept is not in any reference sets

Back to Start