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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3322213010 Congenital neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322214016 Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322220015 Neuronal ceroid lipofuscinosis due to cathepsin D deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322221016 Neuronal ceroid lipofuscinosis 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3535042018 Cathepsin D deficient neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322212017 Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322213010 Congenital neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322213010 Congenital neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322214016 Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322220015 Neuronal ceroid lipofuscinosis due to cathepsin D deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322221016 Neuronal ceroid lipofuscinosis 10 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322221016 Neuronal ceroid lipofuscinosis 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3535042018 Cathepsin D deficient neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3427201001000112 Ceroid-Lipofuszinose, neuronale, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427201001000112 Ceroid-Lipofuszinose, neuronale, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Due to Deficiency of cathepsin D true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Is a Neuronal ceroid lipofuscinosis true Inferred relationship Existential restriction modifier (core metadata concept)
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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