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782750002: deficiëntie van T-cellen met alfa-bèta-positieve T-celreceptor (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755603013 T-cell receptor alpha-beta-positive T-cell deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755604019 TCR (T-cell receptor) alpha-beta-positive T-cell deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755605018 T-cell receptor alpha-beta-positive T-cell deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
9366211000146117 TCR-alfa-bèta-positieve T-celdeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9370361000146118 deficiëntie van T-cellen met alfa-bèta-positieve T-celreceptor (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9370371000146112 deficiëntie van T-cellen met alfa-bèta-positieve T-celreceptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9370381000146114 deficiëntie van T-cellen met alfa-bèta-positieve TCR nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755606017 A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755607014 A rare hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
T-cell receptor alpha-beta-positive T-cell deficiency Is a Combined immunodeficiency disease true Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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