775907000: Congenital pontocerebellar hypoplasia type 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (disorder)
• \Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 9 (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 9 (disorder)
• \anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 9 (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 9 (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 9 (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 9 (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 9 (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 9 (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 9 (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 9 (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 9 (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 9 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 9 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 9 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital pontocerebellar hypoplasia type 9 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 9 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 9 (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 9 (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 9 (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 9 (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 9 (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 9 (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 9 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736319012	Congenital pontocerebellar hypoplasia type 9 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736320018	Congenital pontocerebellar hypoplasia type 9	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4611841015	A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13.	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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