1362021005: Chronic neurovisceral acid sphingomyelinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Fetal and/or neonatal disorder\Congenital disease\...
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5443870010	A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443871014	A rare acid sphingomyelinase deficiency characterised by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidaemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443865015	NPD-A/B - Niemann Pick disease type A/B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443866019	Niemann Pick disease type A/B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443867011	Chronic neurovisceral acid sphingomyelinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443868018	Chronic neurovisceral acid sphingomyelinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443869014	Chronic neurovisceral ASMD (acid sphingomyelinase deficiency)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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