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783142006: Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)

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
3757816012 Pancytopenia due to IKZF1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757817015 Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757818013 Combined immunodeficiency due to IKAROS deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757819017 Pancytopenia due to IKAROS family zinc finger 1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757820011 A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757816012 Pancytopenia due to IKZF1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757817015 Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757818013 Combined immunodeficiency due to IKAROS deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757819017 Pancytopenia due to IKAROS family zinc finger 1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757820011 A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420211001000114 Panzytopenie durch IKZF1-Genmutationen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6497051000241111 pancytopénie due à des mutations du gène IKAROS à doigts de zinc 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6497061000241114 pancytopénie due à des mutations du gène IKFZ1 (IKAROS family zinc finger 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6497051000241111 pancytopénie due à des mutations du gène IKAROS à doigts de zinc 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6497061000241114 pancytopénie due à des mutations du gène IKFZ1 (IKAROS family zinc finger 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420211001000114 Panzytopenie durch IKZF1-Genmutationen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pancytopenia due to IKZF1 mutations Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pancytopenia due to IKZF1 mutations Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Pancytopenia due to IKZF1 mutations Interprets Measurement of total haemoglobin concentration true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pancytopenia due to IKZF1 mutations Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pancytopenia due to IKZF1 mutations Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pancytopenia due to IKZF1 mutations Is a Pancytopenia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pancytopenia due to IKZF1 mutations Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pancytopenia due to IKZF1 mutations Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pancytopenia due to IKZF1 mutations Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pancytopenia due to IKZF1 mutations Interprets Red blood cell count true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pancytopenia due to IKZF1 mutations Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pancytopenia due to IKZF1 mutations Interprets Hemostatic function false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pancytopenia due to IKZF1 mutations Interprets White blood cell count (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pancytopenia due to IKZF1 mutations Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pancytopenia due to IKZF1 mutations Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pancytopenia due to IKZF1 mutations Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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