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45163000: Congenital pontocerebellar hypoplasia (disorder)


Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
75313012 Congenital pontocerebellar hypoplasia en Synonym Active Case insensitive SNOMED CT core
782372019 Congenital pontocerebellar hypoplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 Pathological developmental process true Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Pathological process Pathological developmental process true Inferred relationship Some 2
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 Is a Disorder of brain stem 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 Cerebellar structure false Inferred relationship Some 2
Congenital pontocerebellar hypoplasia Associated morphology Congenital developmental anomaly 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 Congenital hypoplasia 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 Finding site Brain structure false Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Associated morphology Congenital hypoplasia 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 false Inferred relationship Some 2
Congenital pontocerebellar hypoplasia Occurrence Congenital false Inferred relationship Some
Congenital pontocerebellar hypoplasia Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Associated morphology Developmental abnormality false Inferred relationship Some 2
Congenital pontocerebellar hypoplasia Finding site Cerebellar structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital pontocerebellar hypoplasia type 9 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 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
Congenital pontocerebellar hypoplasia type 2 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 7 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 6 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 5 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 4 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 3 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 1 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some
Pontocerebellar hypoplasia type 8 Is a True Congenital pontocerebellar hypoplasia Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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