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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

949 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Musculoskeletal disorder 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Goldenhar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Geroderma osteodysplastica Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with myasthenic-like onset 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
Fetal akinesia, cerebral and retinal haemorrhage syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial dyskinesia and facial myokymia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebrofacioarticular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Velofacioskeletal syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloperipheral dysplasia 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly elbow wrist dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial DNA depletion syndrome encephalomyopathic form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal infantile mitochondrial myopathy 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 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 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmin-related myofibrillar myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type B2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary inclusion body myopathy type 4 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 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent radius, anogenital anomalies syndrome 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 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy 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 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 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
Dysostosis multiplex group Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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