718610008: Congenital pontocerebellar hypoplasia type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pontocerebellar hypoplasia type 1
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pontocerebellar hypoplasia type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Developmental hereditary disorder\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Pontocerebellar hypoplasia type 1

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312926017	Congenital pontocerebellar hypoplasia type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312927014	Congenital pontocerebellar hypoplasia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3312928016	PCH1 - pontocerebellar hypoplasia type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3312929012	Pontocerebellar hypoplasia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3312930019	Norman disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3312988018	PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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