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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
Pelviscapular dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal recessive chondrodysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleidorhizomelic syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Stickler syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked myopathy with excessive autophagy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Temtamy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectoral syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenal mandibular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocraniofacial dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectorovertebral dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Campomelia Cumming type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Rodriguez type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aniridia and absent patella syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bone dysplasia Azouz type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Coxopodopatellar syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cranioosteoarthropathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Boston type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Czech dysplasia metatarsal type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Filippi syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Holt-Oram syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hall Riggs syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphanospondylodysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Robinow-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Karsch Neugebauer syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Oto-palato-digital syndrome, type II Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Oto-palato-digital syndrome, type I Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some

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