770787005: Benign Samaritan congenital myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Benign Samaritan congenital myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Benign congenital myopathy\Benign Samaritan congenital myopathy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Benign congenital myopathy\Benign Samaritan congenital myopathy

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3702794016 Benign Samaritan congenital myopathy (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3702795015 Benign Samaritan congenital myopathy en Synonym Active Initial character case insensitive SNOMED CT core

3702796019 A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Benign Samaritan congenital myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Benign Samaritan congenital myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Benign Samaritan congenital myopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Benign Samaritan congenital myopathy	Is a	Benign congenital myopathy	true	Inferred relationship	Some
Benign Samaritan congenital myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Benign Samaritan congenital myopathy	Occurrence	Congenital	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3702794016	Benign Samaritan congenital myopathy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3702795015	Benign Samaritan congenital myopathy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3702796019	A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	en	Definition	Active	Case sensitive	SNOMED CT core