702344008: syndrome de Pitt-Hopkins (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Pitt-Hopkins syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\convulsion\trouble convulsif\Pitt-Hopkins syndrome
\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome

\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome

\Neurological finding\Seizure related finding\convulsion\trouble convulsif\Pitt-Hopkins syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Pitt-Hopkins syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pitt-Hopkins syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pitt-Hopkins syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Pitt-Hopkins syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Pitt-Hopkins syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Pitt-Hopkins syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Pitt-Hopkins syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Pitt-Hopkins syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Pitt-Hopkins syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995603016 Pitt-Hopkins syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995763012 Pitt-Hopkins syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995797017 PTHS - Pitt-Hopkins syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
732701000241111 syndrome de Pitt-Hopkins (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
888771000172115 syndrome de Pitt-Hopkins fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pitt-Hopkins syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Pitt-Hopkins syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pitt-Hopkins syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Pitt-Hopkins syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Pitt-Hopkins syndrome	est défini par la manifestation de (attribut)	Symptomatic generalized epilepsy	false	Inferred relationship	Some
Pitt-Hopkins syndrome	est défini par la manifestation de (attribut)	Mental retardation	false	Inferred relationship	Some
Pitt-Hopkins syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Pitt-Hopkins syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Pitt-Hopkins syndrome	est un(e) (attribut)	trouble convulsif	true	Inferred relationship	Some
Pitt-Hopkins syndrome	localisation d'une constatation (attribut)	structure de l'encéphale	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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Group

This concept is not in any reference sets