718608006: Congenital pontocerebellar hypoplasia type 4 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312914010	Congenital pontocerebellar hypoplasia type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312915011	Congenital pontocerebellar hypoplasia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312916012	PCH4 - pontocerebellar hypoplasia type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312917015	Pontocerebellar hypoplasia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312918013	Fatal infantile encephalopathy with olivopontocerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312919017	A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner.	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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