725136003: Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1
• \Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Immunodeficiency by defective expression of HLA class 1

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2076981000168114	Immunodeficiency by defective expression of human leucocyte antigen class 1	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
2076991000168112	Immunodeficiency by defective expression of HLA class 1	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
3439277014	Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439278016	Immunodeficiency by defective expression of human leukocyte antigen class 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3439279012	Bare lymphocyte syndrome type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3439280010	Bare lymphocyte syndrome type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3439281014	Immunodeficiency by defective expression of HLA (human leukocyte antigen) class 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3439282019	Immunodeficiency by defective expression of human leukocyte antigen class I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3439283012	A very rare, primary genetic immunodeficiency disorder with characteristic of partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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