68618008: Rett syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Rett syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rett syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\Rett syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Rett syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Rett syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Rett syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\System disorders of the nervous system\Rett syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Rett syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Rett syndrome
\Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Rett syndrome
\Disease\Mental disorder (disorder)\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Rett syndrome
\Disease\Mental disorder (disorder)\Chronic mental disorder\Rett syndrome
\Disease\Chronic disease\Chronic mental disorder\Rett syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Rett syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Rett syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Rett syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rett syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rett syndrome	Is a	Motor skill disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	System disorders of the nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Pervasive developmental disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rett syndrome	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rett syndrome	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Chronic mental disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rett syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rett syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rett syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rett syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Rett syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Rett syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rett syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dementia due to Rett's syndrome	Due to	True	Rett syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Family history of Rett syndrome	Associated finding	True	Rett syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Rett syndrome	Due to	True	Rett syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
113976016	Rett's disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
113977013	Rett syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
113978015	Cerebroatrophic hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501065014	Cerebroatrophic hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233070014	RTS - Rett syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838409013	Rett disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5287632014	Rett syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
113976016	Rett's disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
113977013	Rett syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
113978015	Cerebroatrophic hyperammonemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
113978015	Cerebroatrophic hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501065014	Cerebroatrophic hyperammonaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501065014	Cerebroatrophic hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808473018	Rett's disorder (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808473018	Rett's disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233070014	RTS - Rett syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233070014	RTS - Rett syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838409013	Rett disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2951769014	Retts syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2951769014	Retts syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5287632014	Rett syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3415661001000112	Rett-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275961000077112	syndrome de Rett	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275961000077112	syndrome de Rett	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415661001000112	Rett-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module