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363212003: Hereditary disorder of musculoskeletal system (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
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

984 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, type IV B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Typical nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Amish nemaline myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism type II (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to MYH7 mutation Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Stanescu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Frontorhiny (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteofibrous dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with reduced type 2 muscle fibers (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial gigantiform cementoma of jaw Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Leri-Weill dyschondrosteosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Nievergelt's syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Myosin storage myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mannosidosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
I-cell disease (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Sialic storage disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neutral lipid storage disease with myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myoglobinuria (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis-like plus disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondrodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Singleton-Merten syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain atrophy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Asymmetric crying facies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial juvenile hyperuricemic nephropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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