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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

95 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 True 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 True 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 True Combined immunodeficiency disease Inferred relationship Some

This concept is not in any reference sets

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