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36138009: Congenital immunodeficiency disease (disorder)


Status: current, 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 Reference Sets
60302011 Congenital immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

125 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital immunodeficiency disease Is a Congenital disease (disorder) true Inferred relationship Some
Congenital immunodeficiency disease Is a Immunodeficiency disorder true Inferred relationship Some
Congenital immunodeficiency disease Finding site Structure of immune system (body structure) false Inferred relationship Some
Congenital immunodeficiency disease Occurrence Congenital true Inferred relationship Some 1
Congenital immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Some
Congenital immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease Is a False Congenital immunodeficiency disease Inferred relationship Some
Congenital agammaglobulinemia Is a True Congenital immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Some
Bloom syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital hypergammaglobulinaemia Is a True Congenital immunodeficiency disease Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency disease in Arab foals Is a False Congenital immunodeficiency disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False Congenital immunodeficiency disease Inferred relationship Some
Congenital neutropenia Is a True Congenital immunodeficiency disease Inferred relationship Some
Complement component deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital immunodeficiency involving the hematopoietic system Is a True Congenital immunodeficiency disease Inferred relationship Some
Thymic aplasia or dysplasia with immunodeficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency with multicarboxylase deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital leukocyte adherence deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital dysphagocytosis Is a False Congenital immunodeficiency disease Inferred relationship Some
Shwachman syndrome Is a False Congenital immunodeficiency disease Inferred relationship Some
Vici syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Immuno-osseous dysplasia Is a True Congenital immunodeficiency disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a False Congenital immunodeficiency disease Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Lichtenstein syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some
Monocytopenia with susceptibility to infections Is a True Congenital immunodeficiency disease Inferred relationship Some
RIDDLE syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Majeed syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Some

This concept is not in any reference sets

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