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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
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

213 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 false Inferred relationship Some
Congenital anomaly of skeletal muscle Associated morphology anomalie congénitale 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 (disorder) false Inferred relationship Some
Congenital anomaly of skeletal muscle Is a Lesion of soft tissue (disorder) false Inferred relationship Some
Congenital anomaly of skeletal muscle Associated morphology anomalie congénitale 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 anomalie du développement 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 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal muscle Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
pollice a scatto congenito 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
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. 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
raideur articulaire congénitale associée à une myopathie 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
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 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
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 Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Amyotrophia congenita Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Amyoplasie, kongenitale Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. 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
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 fiber 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 (disorder) 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
lattante ipotonico Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Zebra body myopathy (disorder) 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 (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. 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
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. 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
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. 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
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Acropectororenal dysplasia Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
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 Inferred relationship Some
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. 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 rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Benign congenital myopathy (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital lethal myopathy, Compton-North type is 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. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Myopathy with cytoplasmic inclusions (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
syndrome de Cayler Is a False Congenital anomaly of skeletal muscle Inferred relationship Some
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 Inferred relationship Some
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome. Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hypoplasia of muscle of abdominal wall (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hypoplasia of muscle of limb (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hypoplasia of muscle of pelvis (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hypoplasia of muscle of neck (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some
Congenital hypoplasia of pectoral muscle (disorder) Is a True Congenital anomaly of skeletal muscle Inferred relationship Some

This concept is not in any reference sets

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