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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 (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

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 (core metadata concept) SNOMED CT core
4012916015 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012915016 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4355090018 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4012914017 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012916015 Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4012915016 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4355090018 Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5600181000241119 dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5600181000241119 dystrophie musculaire congénitale de type 1C due à une mutation génétique de la protéine liée à la fukutine fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a Congenital hereditary muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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