45163000: Congenital pontocerebellar hypoplasia (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
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\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
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\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
\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
\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
\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
\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
\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
\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
\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
\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

\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

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

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia
\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia

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

\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia
\Disease\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
\Disease\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
\Disease\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
\Disease\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
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia
\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
\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
\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
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

75313012 Congenital pontocerebellar hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

782372019 Congenital pontocerebellar hypoplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1719761000052110 medfödd pontocerebellär hypoplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital pontocerebellar hypoplasia	Is a	Disorder of brain stem (disorder)	false	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	Dysgenesis of the cerebellum	false	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Finding site	Pontine structure	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Is a	Congenital hypoplasia of part of brain	false	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Associated morphology	kongenital utvecklingsanomali	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Finding site	Pontine structure	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Finding site	Pontine structure	true	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia	Finding site	Pontine structure	false	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Congenital pontocerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital pontocerebellar hypoplasia type 2 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 7 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 6 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 5 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 4 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 3 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 1 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 8 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 9 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 10 (disorder)	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	True	Congenital pontocerebellar hypoplasia	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
75313012	Congenital pontocerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
782372019	Congenital pontocerebellar hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1719761000052110	medfödd pontocerebellär hypoplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)