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190997006: Severe combined immunodeficiency with low T- and B-cell numbers (disorder)

Status: current, Not 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
293705018 Severe combined immunodeficiency with low T- and B-cell numbers en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
574645011 Severe combined immunodeficiency with low T- and B-cell numbers (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
293705018 Severe combined immunodeficiency with low T- and B-cell numbers en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
574645011 Severe combined immunodeficiency with low T- and B-cell numbers (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4848021000241113 immunodéficience sévère et combinée avec nombre faible en cellules T et B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4848021000241113 immunodéficience sévère et combinée avec nombre faible en cellules T et B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe combined immunodeficiency with low T- and B-cell numbers Is a Severe combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low T- and B-cell numbers Severity Severe false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low T- and B-cell numbers Finding site Structure of immune system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe combined immunodeficiency with low T- and B-cell numbers Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe combined immunodeficiency with low T- and B-cell numbers Is a Disorder of immune structure true Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low T- and B-cell numbers Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with low T- and B-cell numbers Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with hypereosinophilia (disorder) Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder) Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to LCK deficiency Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Is a True Severe combined immunodeficiency with low T- and B-cell numbers Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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