FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1336027001: Combined immunodeficiency due to RELA haploinsufficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5362897015 Combined immunodeficiency due to RELA haploinsufficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5362898013 Combined immunodeficiency due to RELA haploinsufficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5362902019 A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362903012 A rare non-severe combined immunodeficiency characterized by tumor necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362897015 Combined immunodeficiency due to RELA haploinsufficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5362898013 Combined immunodeficiency due to RELA haploinsufficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5362902019 A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362903012 A rare non-severe combined immunodeficiency characterized by tumor necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. 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
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Chronic inflammatory disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Chronic disease of immune function (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Genetic disease false Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Mucocutaneous ulcer (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Finding site Structure of skin and/or mucous membrane (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Associated morphology Chronic ulcerative inflammation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Enteritis of intestine true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Chronic digestive system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 3
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start