763718009: Finnish upper limb onset distal myopathy (disorder)

Id Description Lang Type Status Case? Module

3643470012 Finnish upper limb onset distal myopathy en Synonym Active Case sensitive SNOMED CT core

3643471011 Finnish upper limb onset distal myopathy (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3643472016 Distal myopathy type 3 en Synonym Active Case insensitive SNOMED CT core

3643473014 A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Finnish upper limb onset distal myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	Clinical course	Progressive	true	Inferred relationship	Some	3
Finnish upper limb onset distal myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Finnish upper limb onset distal myopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Finnish upper limb onset distal myopathy	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Finnish upper limb onset distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Occurrence	Congenital	false	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Occurrence	Adulthood	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
3643470012	Finnish upper limb onset distal myopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
3643471011	Finnish upper limb onset distal myopathy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3643472016	Distal myopathy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3643473014	A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	en	Definition	Active	Case sensitive	SNOMED CT core