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442459007: Combined immunodeficiency disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2819524017 Combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819525016 Combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

144 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined immunodeficiency disease Is a Primary immune deficiency disorder true Inferred relationship Some
Combined immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Some
Combined immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Benign combined immunodeficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency disease Is a True Combined immunodeficiency disease Inferred relationship Some
Vici syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Immuno-osseous dysplasia Is a True Combined immunodeficiency disease Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive lymphoproliferative disease (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to STK4 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
RIDDLE syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Pancytopenia due to IKZF1 mutations Is a True Combined immunodeficiency disease Inferred relationship Some
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection Is a True Combined immunodeficiency disease Inferred relationship Some
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with granulomatosis Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to moesin deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to transferrin receptor deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
BENTA disease Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to ITK deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) Is a False Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to DOCK8 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a True Combined immunodeficiency disease Inferred relationship Some
Dedicator of cytokinesis 2 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a False Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to FCHO1 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Is a False Combined immunodeficiency disease Inferred relationship Some
Autosomal dominant combined immunodeficiency due to Aiolos deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to inducible T cell costimulator deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to inducible T-cell costimulator ligand deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Hyperimmunoglobulin E syndrome Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 2 accessory subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to minichromosome maintenance complex component 10 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Major histocompatibility complex class I deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Major histocompatibility complex class II deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to RELB proto-oncogene, NF-kB subunit mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
X-linked combined immunodeficiency due to SASH3 deficiency Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to CD28 mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal dominant combined immunodeficiency due to STAT5b mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to REL mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to BCL10 mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to CHUK mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to IKZF2 mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to ITPKB mutation Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some
Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) Is a True Combined immunodeficiency disease Inferred relationship Some

This concept is not in any reference sets

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