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89886004: Congenital anomaly of skeletal muscle (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
149003012 Congenital anomaly of skeletal muscle en Synonym Active Case insensitive SNOMED CT core
149004018 Congenital anomaly of skeletal muscle, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Case insensitive SNOMED CT core

168 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal muscle Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle system 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 false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Is a Lesion of skeletal muscle false Inferred relationship Some
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 Is a Soft tissue lesion false Inferred relationship Some
Congenital anomaly of skeletal muscle Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal muscle Finding site Skeletal muscle 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 Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure false Inferred relationship Some 2
Congenital anomaly of skeletal muscle Is a Congenital anomaly of muscle AND/OR tendon true Inferred relationship Some
Congenital anomaly of skeletal muscle Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal muscle Finding site Skeletal muscle structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Gouty tophus of tendon Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Epidermolysis bullosa simplex with muscular dystrophy 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 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
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathic Ehlers-Danlos syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital articular rigidity with myopathy 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
Hereditary 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 fibre 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
Mixed congenital myopathy 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 False Congenital anomaly of skeletal muscle Inferred relationship Some
Myotubular myopathy Is a True 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 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 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
Congenital anomaly of diaphragm Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Accessory skeletal muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital trigger thumb 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
Leber's optic atrophy Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital fibrosis syndrome Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Xanthoma tendinosum 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 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 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 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
Congenital nonprogressive myopathy with Moebius and Robin sequences Is a True 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
Congenital contracture of gastrocnemius muscle Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myoclonic epilepsy with ragged red fibres 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
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
Lipid storage myopathy 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 Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Acro-pectoro-renal dysplasia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Qazi Markouizos syndrome Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome 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
Aberrant muscle of the upper limb Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with myasthenic-like onset Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome 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 Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores 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
Combined malformation of central nervous system and skeletal muscle 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 Is a False Congenital anomaly of skeletal muscle Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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