58795000: Distal muscular dystrophy (disorder)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal muscular dystrophy	Is a	Autosomal recessive muscular dystrophy not predominantly limb girdle	false	Inferred relationship	Some
Distal muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Distal muscular dystrophy	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Distal muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Distal muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Distal muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Distal muscular dystrophy	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Distal muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Distal muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Distal muscular dystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	2
Distal muscular dystrophy	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Distal muscular dystrophy	Is a	Congenital hereditary muscular dystrophy (disorder)	false	Inferred relationship	Some
Distal muscular dystrophy	Is a	Muscular dystrophy not predominantly limb girdle in distribution	true	Inferred relationship	Some
Distal muscular dystrophy	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Distal muscular dystrophy	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Distal muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal muscular dystrophy with juvenile onset	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Benign congenital muscular dystrophy with finger flexion contractures	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy with adult onset	Is a	False	Distal muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy, Miyoshi type	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal myopathy 2	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Tibial muscular dystrophy	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal myopathy with early respiratory muscle involvement	Is a	False	Distal muscular dystrophy	Inferred relationship	Some
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic 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.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some
A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.	Is a	True	Distal muscular dystrophy	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
97704017	Distal muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
797566013	Distal muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635423019	Distal myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
445001000172119	dystrophie musculaire distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2388871000195115	Distale Myopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437171001000111	Miyoshi-Myopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module