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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
60303018 Congenital immunodeficiency disease, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
67451000077114 immunodéficience congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
689661000077111 immunodéficience congénitale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

127 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital immunodeficiency disease Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Congenital immunodeficiency disease est un(e) (attribut) Congenital disease true Inferred relationship Some
Congenital immunodeficiency disease est un(e) (attribut) troubles d'immunodéficience true Inferred relationship Some
Congenital immunodeficiency disease est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some
Congenital immunodeficiency disease localisation d'une constatation (attribut) structure du système immunitaire false Inferred relationship Some
Congenital immunodeficiency disease survenue (attribut) congénital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital agammaglobulinemia est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
syndrome de dermatite sévère-allergies multiples-cachexie métabolique est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Monocytopenia with susceptibility to infections est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
RIDDLE syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Majeed syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Hennekam syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Leucocyte adhesion deficiency - type 2 est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Family history of congenital immunodeficiency disease (situation) constatation associée (attribut) True Congenital immunodeficiency disease Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency disease est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
syndrome de Wiskott-Aldrich (trouble) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Hypopigmentation-immunodeficiency disease est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
syndrome de Bloom (trouble) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency with multicarboxylase deficiency (disorder) est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Congenital hypergammaglobulinemia est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Purine-nucleoside phosphorylase deficiency est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Congenital leukocyte adherence deficiency est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Congenital dysphagocytosis est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency disease in Arab foals est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
X-linked lymphoproliferative syndrome est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Shwachman syndrome est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Congenital neutropenia est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Complement component deficiency est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Congenital immunodeficiency involving the haematopoietic system est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Chédiak-Higashi syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Immuno-osseous dysplasia est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Lichtenstein syndrome est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency est un(e) (attribut) False Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) True Congenital immunodeficiency disease Inferred relationship Some

This concept is not in any reference sets

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