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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym Active Entire term case insensitive SNOMED CT core module
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

948 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 true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly taurinuria syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Jeune thoracic dystrophy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Long thumb brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type II Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type IV Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
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
Summitt syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Goldenhar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital myopathy with myasthenic-like onset Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fetal akinesia, cerebral and retinal hemorrhage syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial dyskinesia and facial myokymia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cerebrofacioarticular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Velofacioskeletal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dislocation of hip and facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Keipert syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Myosclerosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly elbow wrist dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital myopathy with internal nuclei and atypical cores Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
King Denborough syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle filaminopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spheroid body myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal infantile mitochondrial myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metabolic myopathy due to lactate transporter defect Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cono-spondylar dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Multicentric carpotarsal osteolysis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Otopalatodigital syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Late-onset distal myopathy Markesbery Griggs type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Desmin-related myofibrillar myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly type B2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked spondyloepimetaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked parkinsonism with spasticity syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary inclusion body myopathy type 4 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Distal muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Tetramelic monodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Rhizomelic syndrome Urbach type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dentin dysplasia with sclerotic bone syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Postaxial tetramelic oligodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ectrodactyly polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hallux varus, preaxial polysyndactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Absent radius, anogenital anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Parietal foramina with clavicular hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Axial spondylometaphyseal dysplasia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Teebi Shaltout syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive lower motor neuron disease with childhood onset Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thrombocythemia with distal limb defect Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome classic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome cardiac valvular type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome progeroid type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome vascular-like type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brittle cornea syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Bieganski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Golden type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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