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58258004: Infantile neuronal ceroid lipofuscinosis (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1231818019 Hagberg-Santavouri type neuronal ceroid lipofuscinosis en Synonym Active Initial character case insensitive SNOMED CT core
1231819010 Neuronal ceroid lipofuscinosis infantile Finnish type en Synonym Active Initial character case insensitive SNOMED CT core
1231820016 Polyunsaturated fatty acid lipidosis en Synonym Active Case insensitive SNOMED CT core
1231821017 Haltia-Santavouri type neuronal ceroid lipofuscinosis en Synonym Active Initial character case insensitive SNOMED CT core
796970016 Infantile neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
96816010 Infantile neuronal ceroid lipofuscinosis en Synonym Active Case insensitive SNOMED CT core
96817018 Hagberg-Santavuori disease en Synonym Active Case sensitive SNOMED CT core
96818011 Santavuori disease en Synonym Active Case sensitive SNOMED CT core
96819015 Neuronal ceroid lipofuscinosis, infantile Finnish type en Synonym Active Initial character case insensitive SNOMED CT core
96820014 Polyunsaturated acid lipidosis en Synonym Active Case insensitive SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Is a Neuronal ceroid lipofuscinosis true Inferred relationship Some
Infantile neuronal ceroid lipofuscinosis Occurrence Congenital true Inferred relationship Some 2
Infantile neuronal ceroid lipofuscinosis Associated morphology Dystrophy false Inferred relationship Some
Infantile neuronal ceroid lipofuscinosis Associated morphology Degeneration false Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Finding site Structure of nervous system true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive myoclonic epilepsy type 3 Is a True Infantile neuronal ceroid lipofuscinosis Inferred relationship Some
Late-infantile neuronal ceroid lipofuscinosis Is a True Infantile neuronal ceroid lipofuscinosis Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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