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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of lysine and hydroxylysine metabolism\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of lysine AND/OR hydroxylysine metabolism\Disorder of lysine and hydroxylysine metabolism\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3428355013 Seizures and intellectual disability due to hydroxylysinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428357017 Seizures and intellectual disability due to hydroxylysinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	Disorder of lysine and hydroxylysine metabolism	true	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3428354012	Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428355013	Seizures and intellectual disability due to hydroxylysinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428357017	Seizures and intellectual disability due to hydroxylysinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core