1373509009: Carnosinase deficiency disorder (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Carnosinase deficiency disorder
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carnosinase deficiency disorder
• \Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Carnosinase deficiency disorder
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Carnosinase deficiency disorder
• \Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)\Carnosinemia (disorder)\Carnosinase deficiency disorder
• \Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)\Carnosinuria (disorder)\Carnosinase deficiency disorder

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5481988011	Carnosinase deficiency disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5481989015	Carnosinase deficiency disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5481990012	A rare inborn error of metabolism characterised by low serum carnosinase activity, persistent carnosinuria, and carnosinaemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5481991011	A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.	en	Definition	Active	Entire term case sensitive (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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