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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
Camptodactyly taurinuria syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Goodman-Syndrom Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Summitt Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
SCARF syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Goldenhar syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with myasthenic-like onset (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 5 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial dyskinesia and facial myokymia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrofacioarticular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
White forelock with malformations syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dislocation of hip and facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloperipheral dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly elbow wrist dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with internal nuclei and atypical cores Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
King Denborough syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscle filaminopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spheroid body myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset distal myopathy Markesbery Griggs type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Desmin-related myofibrillar myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type B2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spondyloepimetaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked parkinsonism with spasticity syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary inclusion body myopathy type 4 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic syndrome Urbach type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hallux varus, preaxial polysyndactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Absent radius, anogenital anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Parietal foramina with clavicular hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant muscular dystrophy with limb girdle distribution Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Axial spondylometaphyseal dysplasia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a True Hereditary disorder of musculoskeletal system 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 Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lower motor neuron disease with childhood onset Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Thrombocythemia with distal limb defect Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Arthrochalasia Ehlers-Danlos syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome cardiac valvular type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome progeroid type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
dysplasie spondylo-épimétaphysaire type Bieganski Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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