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36138009: Congenital immunodeficiency disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
60302011 Congenital immunodeficiency disease en Synonym Active Entire term case insensitive SNOMED CT core module
60303018 Congenital immunodeficiency disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

129 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital immunodeficiency disease Is a Congenital disease true Inferred relationship Existential restriction modifier
Congenital immunodeficiency disease Is a Immunodeficiency disorder true Inferred relationship Existential restriction modifier
Congenital immunodeficiency disease Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Congenital immunodeficiency disease Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Congenital immunodeficiency disease Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Chronic granulomatous disease Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital agammaglobulinemia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Severe combined immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Wiskott-Aldrich syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Hypopigmentation-immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Bloom syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital hypergammaglobulinemia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Ataxia-telangiectasia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency disease in Arab foals Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
X-linked lymphoproliferative syndrome Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital neutropenia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Complement component deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital immunodeficiency involving the hematopoietic system Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Thymic aplasia or dysplasia with immunodeficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Chronic granulomatous disease Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Immunodeficiency with multicarboxylase deficiency Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital leukocyte adherence deficiency Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital dysphagocytosis Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Shwachman syndrome Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Vici syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Absent thumb with short stature and immunodeficiency syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Immuno-osseous dysplasia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Neutropenia, monocytopenia, deafness syndrome Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia with immune deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Lichtenstein syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Immunodeficiency due to ficolin 3 deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency due to OX40 deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Monocytopenia with susceptibility to infections Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Hennekam lymphangiectasia-lymphedema syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Leukocyte adhesion deficiency - type 2 Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Combined immunodeficiency, enteropathy spectrum Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier
Family history of congenital immunodeficiency disease Associated finding True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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