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890368007: Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4012914017 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
4012916015 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a Congenital hereditary muscular dystrophy true Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Clinical course Progressive true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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