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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
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal limb deficiency with micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial caudal dysgenesis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parastremmatic dwarfism Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular dystrophy Selcen type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Native American myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracolaryngopelvic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Grant syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schimke immuno-osseous dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
RHYNS syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patterson Stevenson Fontaine syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Richieri Costa Pereira syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile malignant osteopetrosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Myopathy due to calsequestrin and SERCA1 protein overload Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy with sideroblastic anaemia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
8q13 microdeletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Keutel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism Teebi type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant osteopetrosis type 2 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crisponi syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniomicromelic syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital short costocoracoid ligament Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Omodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial Scheuermann disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genochondromatosis type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome Saldino Noonan type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial chondromalacia of patella Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Eng Strom syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Coxoauricular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bone dysplasia lethal Holmgren type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis fibular aplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Czeizel Losonci syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sillence syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptobrachydactyly Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
OSLAM syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Banki syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Say Field Coldwell syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly taurinuria syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mononen Karnes Senac syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Van den Bosch syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult onset multiple mitochondrial DNA 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 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

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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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