723994004: Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Lysine and hydroxylysine metabolism disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of lysine AND/OR hydroxylysine metabolism\Lysine and hydroxylysine metabolism disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3428354012	Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3428355013	Seizures and intellectual disability due to hydroxylysinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3428357017	Seizures and intellectual disability due to hydroxylysinuria syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3428356014	This syndrome has characteristics of hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.	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

Description inactivation indicator reference set

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