718610008: Congenital pontocerebellar hypoplasia type 1 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\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 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)

\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\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 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\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\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 1 (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

3312926017 Congenital pontocerebellar hypoplasia type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312927014 Congenital pontocerebellar hypoplasia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312928016 PCH1 - pontocerebellar hypoplasia type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3312929012 Pontocerebellar hypoplasia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312930019 Norman disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital pontocerebellar hypoplasia type 1 (disorder)	Is a	Congenital pontocerebellar hypoplasia	true	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 1 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 1 (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 1 (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 1 (disorder)	Finding site	Pontine structure	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 1 (disorder)	Finding site	Pontine structure	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 1 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312926017	Congenital pontocerebellar hypoplasia type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312927014	Congenital pontocerebellar hypoplasia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312928016	PCH1 - pontocerebellar hypoplasia type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312929012	Pontocerebellar hypoplasia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312930019	Norman disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core