764859001: Laing early-onset distal myopathy (disorder)

Id Description Lang Type Status Case? Module

3655416016 Distal myopathy type 1 en Synonym Active Case insensitive SNOMED CT core

3655417013 Laing early-onset distal myopathy en Synonym Active Case sensitive SNOMED CT core

3655418015 Gowers disease en Synonym Active Case sensitive SNOMED CT core

3655419011 Laing early-onset distal myopathy (disorder) en Fully specified name Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Laing early-onset distal myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Laing early-onset distal myopathy	Clinical course	Progressive	true	Inferred relationship	Some	3
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 abnormality	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3655416016	Distal myopathy type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3655417013	Laing early-onset distal myopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3655418015	Gowers disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3655419011	Laing early-onset distal myopathy (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	SNOMED CT core