1340174002: Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of amino acid level (finding)\Amino acid below reference range (finding)\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Amino acid below reference range (finding)\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5373324015	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373325019	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373326018	Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373327010	A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373328017	A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinemia. Additional clinical features may include heart defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373324015	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373325019	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373326018	Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5373327010	A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5373328017	A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinemia. Additional clinical features may include heart defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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