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1197428008: Combined immunodeficiency, enteropathy spectrum (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4696302016 CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696305019 Combined immunodeficiency, enteropathy spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696306018 Combined immunodeficiency, enteropathy spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696303014 A rare genetic disease with characteristics of 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 immunoglobulin G, immunoglobulin A, and immunoglobulin M, with elevated serum immunoglobulin E. The disease is mostly fatal in infancy or childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696304015 A rare genetic disease with characteristics of 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 generalised T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of immunoglobulin G, immunoglobulin A, and immunoglobulin M, with elevated serum immunoglobulin E. The disease is mostly fatal in infancy or childhood. 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, enteropathy spectrum Is a Inflammation of intestine (disorder) true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Inflammatory bowel disease true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Congenital immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Developmental hereditary disorder true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Combined immunodeficiency disease true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Congenital atresia of intestinal tract true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Occurrence Congenital true Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Finding site Intestinal structure true Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Associated morphology Congenital atresia true Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Finding site Intestinal structure true Inferred relationship Some 1
Combined immunodeficiency, enteropathy spectrum Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
Combined immunodeficiency, enteropathy spectrum Pathological process (attribute) Dysregulated host response true Inferred relationship Some 1
Combined immunodeficiency, enteropathy spectrum Is a Hereditary white blood cell disorder (disorder) true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a Lymphocytopenia true Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Interprets Lymphocyte count true Inferred relationship Some 3
Combined immunodeficiency, enteropathy spectrum Has interpretation Below reference range true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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