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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
60302011 Congenital immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
60302011 Congenital immunodeficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
60302011 Congenital immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
381581000274114 Angeborener Immundefekt de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
67451000077114 immunodéficience congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
67451000077114 immunodéficience congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
381581000274114 Angeborener Immundefekt de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

140 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 (core metadata concept)
Congenital immunodeficiency disease Is a Immunodeficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital immunodeficiency disease Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital immunodeficiency disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Chédiak-Higashi syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic granulomatous disease Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital agammaglobulinemia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypopigmentation-immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypergammaglobulinaemia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Purine-nucleoside phosphorylase deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency disease in Arab foals Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lymphoproliferative syndrome Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital neutropenia Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Complement component deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital immunodeficiency involving the hematopoietic system (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Thymic aplasia or dysplasia with immunodeficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic granulomatous disease (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency with multicarboxylase deficiency Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Leukozytenadhäsionsdefekt Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysphagocytosis Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immuno-osseous dysplasia (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Lichtenstein syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency due to ficolin 3 deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to OX40 deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Monocytopenia with susceptibility to infections Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
RIDDLE syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Leucocyte adhesion deficiency - type 2 Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
PGM3-related congenital disorder of glycosylation Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of congenital immunodeficiency disease (situation) Associated finding True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Netherton syndrome (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) Is a True Congenital immunodeficiency disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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