1172694007: Adenylosuccinate synthetase-like 1-related distal myopathy (disorder)

Id Description Lang Type Status Case? Module

4635399012 ADSSL1-related distal myopathy en Synonym Active Case sensitive SNOMED CT core

4635400017 Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4635401018 Adenylosuccinate synthetase-like 1-related distal myopathy en Synonym Active Case insensitive SNOMED CT core

4635402013 A rare autosomal recessive distal myopathy with characteristics of 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. en Definition Active Case sensitive SNOMED CT core

4635403015 A rare autosomal recessive distal myopathy with characteristics of 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 fibre size variation, increased internal nuclei, fibre splitting, rimmed vacuoles and focal endomysial fibrosis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenylosuccinate synthetase-like 1-related distal myopathy	Is a	Distal muscular dystrophy	true	Inferred relationship	Some
Adenylosuccinate synthetase-like 1-related distal myopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Adenylosuccinate synthetase-like 1-related distal myopathy	Clinical course	Progressive	true	Inferred relationship	Some	2
Adenylosuccinate synthetase-like 1-related distal myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Adenylosuccinate synthetase-like 1-related distal myopathy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Adenylosuccinate synthetase-like 1-related distal myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
4635399012	ADSSL1-related distal myopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
4635400017	Adenylosuccinate synthetase-like 1-related distal myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4635401018	Adenylosuccinate synthetase-like 1-related distal myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
4635402013	A rare autosomal recessive distal myopathy with characteristics of 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.	en	Definition	Active	Case sensitive	SNOMED CT core
4635403015	A rare autosomal recessive distal myopathy with characteristics of 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 fibre size variation, increased internal nuclei, fibre splitting, rimmed vacuoles and focal endomysial fibrosis.	en	Definition	Active	Case sensitive	SNOMED CT core