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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
Oto-palato-digital syndrome, type I Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Oculootoradial syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ballard syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Catel Manzke syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fuhrmann syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteocraniostenosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pacman dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial caudal dysgenesis (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parastremmatic dwarfism (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular dystrophy Selcen type (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) 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 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
8q13 microdeletion syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Keutel syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant osteopetrosis type 2 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crisponi syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniomicromelic syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital short costocoracoid ligament (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Omodysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial Scheuermann disease (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial chondromalacia of patella (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Coxoauricular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptobrachydactyly (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Banki syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some

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