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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
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tel Hashomer camptodactyly syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofrontofacionasal dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectoral syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenal mandibular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrorenoocular syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocapitofemoral dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocraniofacial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acropectorovertebral dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Campomelia Cumming type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiocranial syndrome Pfeiffer type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Catania type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Palagonia type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Rodriguez type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aniridia and absent patella syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebro-facio-thoracic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Coxopodopatellar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cranio-osteoarthropathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial conodysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dyssynostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Boston type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Philadelphia type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Czech dysplasia metatarsal type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Filippi syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fountain syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frank-Ter Haar syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fine Lubinsky syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hall Riggs syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart defect and limb shortening syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart-hand syndrome Slovenian type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Oliver syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphanospondylodysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibular aplasia and ectrodactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dermatoosteolysis Kirghizian type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypomandibular faciocranial dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juberg Hayward syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Qazi Markouizos syndrome 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
Odontochondrodysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lowry MacLean syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DOORS syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a True 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
IVIC syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ballard syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Catel Manzke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Guttmacher syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fuhrmann syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteocraniostenosis 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 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pacman dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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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