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89886004: Congenital anomaly of skeletal muscle (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
149003012 Congenital anomaly of skeletal muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3001341000005110 kongenit skeletmuskelanomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

143 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal muscle Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Congenital anomaly of skeletal muscle Is a Disorder of skeletal muscle false Inferred relationship Some
Congenital anomaly of skeletal muscle Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure (body structure) false Inferred relationship Some
Congenital anomaly of skeletal muscle Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle system structure (body structure) false Inferred relationship Some
Congenital anomaly of skeletal muscle Is a Disorder of skeletal muscle true Inferred relationship Some
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Is a Lesion of skeletal muscle structure false Inferred relationship Some
Congenital anomaly of skeletal muscle Is a Soft tissue lesion false Inferred relationship Some
Congenital anomaly of skeletal muscle Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal muscle Associated morphology dysgenese false Inferred relationship Some 2
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital anomaly of skeletal muscle Is a Congenital anomaly of muscle AND/OR tendon (disorder) true Inferred relationship Some
Congenital anomaly of skeletal muscle Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital trigger thumb (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Aberrant muscle of the lower limb Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myoclonic epilepsy with ragged red fibers Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital failure of eye elevation Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Infantile botulism Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Lipid storage myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Aberrant muscle of the upper limb Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Combined malformation of central nervous system and skeletal muscle (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Gouty tophus of tendon Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital articular rigidity with myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Triglyceride storage disease with ichthyosis Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Distal arthrogryposis syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of sternocleidomastoid muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Kearns-Sayre syndrome (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital absence of skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital shortening of tendon (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Accessory skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Leber's optic atrophy Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Xanthoma tendinosum (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Amyotrophia congenita Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Amyoplasia congenita disruptive sequence (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Progressive myositis ossificans (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Supernumerary eye muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of diaphragm (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Muscle AMP deaminase deficiency Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Multiple supernumerary eye muscles Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Hypoplasia of eye muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Amyotrophica congenita Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Benign congenital hypotonia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathy with abnormality of histochemical fibre type Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Hereditær myositis ossificans Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hereditary muscular dystrophy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital eventration of diaphragm Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital diaphragmatic hernia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fiber type disproportion myopathy Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Floppy infant syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Zebra body myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease type VIII Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Central core disease Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Sarcotubular myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hiatus hernia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Multi-core congenital myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease, hepatic form Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hyperplasia of muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Blandet kongenit myopati Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with abnormal subcellular organelles Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Glycogen storage disease, type I Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Nemaline myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myotubular myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital anomaly of diaphragm (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital contracture of gastrocnemius muscle (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital absence of abdominal muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Hypoplasia of eye muscle Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Strabismus fixus Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Acropectororenal dysplasia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Native American myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with myasthenic-like onset (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Lethal congenital contracture syndrome type 5 Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Cylindrical spirals myopathy (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
King Denborough syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Benign congenital myopathy Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathy with cytoplasmic inclusions Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Asymmetric crying face association Is a True Congenital anomaly of skeletal muscle Inferred relationship Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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