1179286007: Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined immunodeficiency due to GINS1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to GINS1 deficiency

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650548012	Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650550016	Combined immunodeficiency due to GINS complex subunit 1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650551017	Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4650552012	Combined immunodeficiency due to GINS1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650553019	Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5168713016	A rare syndrome with combined immunodeficiency and characteristics of intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due to a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema along with mild facial dysmorphism.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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