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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

950 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 Some
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly taurinuria syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jeune thoracic dystrophy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Long thumb brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Van den Bosch syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Summitt syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
SCARF syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Vitamin D-dependent rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Goldenhar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with myasthenic-like onset (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal congenital contracture syndrome type 5 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial dyskinesia and facial myokymia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Velofacioskeletal syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
White forelock with malformations syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Keipert syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloperipheral dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Myosclerosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
King Denborough syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle filaminopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spheroid body myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal infantile mitochondrial myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metabolic myopathy due to lactate transporter defect Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cono-spondylar dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otopalatodigital syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmin-related myofibrillar myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type B2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary inclusion body myopathy type 4 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal muscular dystrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tetramelic monodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rhizomelic syndrome Urbach type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial tetramelic oligodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ectrodactyly polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Teebi Shaltout syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive lower motor neuron disease with childhood onset Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome classic type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Arthrochalasia Ehlers-Danlos syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome progeroid type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Brittle cornea syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Bieganski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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