724228005: calcifications du plexus choroïde, forme infantile (trouble)

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\lésion cérébrale\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\lésion cérébrale\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\lésion cérébrale\Infantile choroidocerebral calcification syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection dégénérative\Calcinosis\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Infantile choroidocerebral calcification syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Infantile choroidocerebral calcification 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
3432896016	Infantile choroidocerebral calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432897013	Infantile choroidocerebral calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432898015	Choroid plexus calcification and mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760421000241118	calcifications du plexus choroïde, forme infantile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957361000172111	calcifications du plexus choroïde, forme infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3432899011	This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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