720830009: Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital neuronal ceroid lipofuscinosis
• \Degenerative disorder\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis
• \Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Congenital neuronal ceroid lipofuscinosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322212017	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3322213010	Congenital neuronal ceroid lipofuscinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3322214016	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322220015	Neuronal ceroid lipofuscinosis due to cathepsin D deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322221016	Neuronal ceroid lipofuscinosis 10	en	Synonym	Active	Case insensitive	SNOMED CT core
3535042018	Cathepsin D deficient neuronal ceroid lipofuscinosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322215015	A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D.	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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