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782720005: Congenital pontocerebellar hypoplasia type 10 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3755469019 Congenital pontocerebellar hypoplasia type 10 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3755470018 Congenital pontocerebellar hypoplasia type 10 en Synonym Active Entire term case insensitive SNOMED CT core module
3755471019 CLP1-related pontocerebellar hypoplasia en Synonym Active Entire term case sensitive SNOMED CT core module
3755472014 CLP1 (cleavage and polyadenylation factor I subunit 1) related pontocerebellar hypoplasia en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital pontocerebellar hypoplasia type 10 Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 10 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 10 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 10 Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 10 Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 10 Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 10 Is a Congenital pontocerebellar hypoplasia true Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Finding site Pontine structure true Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 10 Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 10 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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