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764859001: Laing early-onset distal myopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655416016 Distal myopathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655417013 Laing early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655418015 Gowers disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655419011 Laing early-onset distal myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655420017 Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Laing early-onset distal myopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Laing early-onset distal myopathy Is a Distal muscular dystrophy true Inferred relationship Some
Laing early-onset distal myopathy Associated morphology Developmental anomaly false Inferred relationship Some 2
Laing early-onset distal myopathy Occurrence Congenital false Inferred relationship Some 2
Laing early-onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Some 2
Laing early-onset distal myopathy Associated morphology Dystrophy true Inferred relationship Some 2
Laing early-onset distal myopathy Occurrence Congenital false Inferred relationship Some 1
Laing early-onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Some 1
Laing early-onset distal myopathy Associated morphology Dystrophy true Inferred relationship Some 1
Laing early-onset distal myopathy Occurrence Childhood true Inferred relationship Some 1
Laing early-onset distal myopathy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Laing early-onset distal myopathy Clinical course Progressive (qualifier value) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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