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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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

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