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

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

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
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

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