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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
149003012 Congenital anomaly of skeletal muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
149003012 Congenital anomaly of skeletal muscle en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
149003012 Congenital anomaly of skeletal muscle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
832873019 Congenital anomaly of skeletal muscle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5849501000241111 anomalie congénitale d'un muscle squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5849501000241111 anomalie congénitale d'un muscle squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

192 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal muscle (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Finding site Skeletal muscle system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Is a Lesion of skeletal muscle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Is a Lesion of soft tissue (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal muscle (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal muscle (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal muscle (disorder) Is a Congenital anomaly of muscle AND/OR tendon true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal muscle (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal muscle (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
pollice a scatto congenito Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aberrant muscle of the lower limb Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital failure of eye elevation (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile botulism Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipid storage myopathy Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aberrant muscle of the upper limb Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined malformation of central nervous system and skeletal muscle Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of tendon Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
raideur articulaire congénitale associée à une myopathie Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Triglyceride storage disease with ichthyosis Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of sternocleidomastoid muscle Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kearns-Sayre syndrome Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skeletal muscle Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital shortening of tendon Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Accessory skeletal muscle (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leber's optic atrophy Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Xanthoma tendinosum Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophia congenita Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myositis ossificans Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary eye muscle Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of diaphragm Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple supernumerary eye muscles Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of eye muscle Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophica congenita Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital hypotonia (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with abnormality of histochemical fibre type Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary myositis ossificans Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary muscular dystrophy Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital eventration of diaphragm Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital diaphragmatic hernia Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber type disproportion myopathy Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Floppy infant syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Zebra body myopathy (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease type VIII Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sarcotubular myopathy Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hiatus hernia Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular hypertrophy-cerebral syndrome Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multi-core congenital myopathy (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, hepatic form Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis with glucoaminophosphaturia Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperplasia of muscle (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mixed congenital myopathy Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with abnormal subcellular organelles (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nemaline myopathy (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Steinert myotonic dystrophy syndrome Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of diaphragm Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of gastrocnemius muscle (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of abdominal muscle (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of eye muscle Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Strabismus fixus Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acropectororenal dysplasia Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Puerto Rican infant hypotonia syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with myasthenic-like onset (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 5 Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cylindrical spirals myopathy (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with internal nuclei and atypical cores Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
King Denborough syndrome Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital myopathy Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, developmental delay, contracture syndrome Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with muscular dystrophy Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with cytoplasmic inclusions (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 2 Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Cayler Is a False Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathic Ehlers-Danlos syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Asymmetric crying facies syndrome (disorder) Is a True Congenital anomaly of skeletal muscle (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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