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725043006: Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3437372012 Autosomal recessive limb girdle muscular dystrophy type 2O (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3437373019 Autosomal recessive limb girdle muscular dystrophy type 2O en Synonym Active Only initial character case insensitive SNOMED CT core module
3437374013 Limb-girdle muscular dystrophy 2O POMGNT1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3437375014 Limb-girdle muscular dystrophy 2O POMGNT1 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
Autosomal recessive limb girdle muscular dystrophy type 2O Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2O Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2O Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2O Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Autosomal recessive limb girdle muscular dystrophy type 2O 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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