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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


926 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system est un(e) (attribut) maladie du système musculosquelettique (trouble) true Inferred relationship Some
Hereditary disorder of musculoskeletal system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system localisation d'une constatation (attribut) appareil locomoteur true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysostose acrofaciale type Rodríguez est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bone dysplasia Azouz type (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome coxo-podo-patellaire est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Boston type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Czech dysplasia metatarsal type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fine Lubinsky syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphanospondylodysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dermato-ostéolyse type Kirghize est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juberg Hayward syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Robinow-like syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome oto-palato-digital type 2 (trouble) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome oto-palato-digital type 1 (trouble) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Oculootoradial syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Catel Manzke syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Furhmann est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteocraniostenosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pacman dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial caudal dysgenesis (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parastremmatic dwarfism (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

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