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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
Inherited spastic paresis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibrochondrogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysplasia epiphysealis hemimelica Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metachondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schwartz-Jampel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juvenile hyaline fibromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desbuquois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Francois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blomstrand dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Raine dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpotarsal osteochondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jarcho-Levin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Larsen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seckel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa, x-linked Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Asymmetric crying face association Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmosterolosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fryns syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Grebe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Marshall-Smith syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Treacher Collins syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyggve-Melchior-Clausen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trichorhinophalangeal syndrome type 1 and 3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary camptodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myopathy associated with hydrocephalus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial x-linked hypophosphataemic vitamin D refractory rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Achondroplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Huntington's chorea Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type I Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Kniest-like syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kniest dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Proteus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rolland-Debuqois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blount disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type D Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Goldberg Shprintzen megacolon syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial median cleft of upper and lower lip Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Abruzzo Erickson syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ablepharon macrostomia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephaly cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Kapur Toriello syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bamforth Lazarus syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Weaver Williams syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip retinopathy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lowry Yong syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Zlotogora Ogur syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bifid nose Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked cleft palate and ankyloglossia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Genitopalatocardiac syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis type 3 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Saethre-Chotzen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genochondromatosis type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type 5 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysmorphic sialidosis, infantile form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile systemic hyalinosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Curry-Hall syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aspartylglucosaminuria Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial hypokalaemic periodic paralysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Floating-Harbour syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hunter-Thompson dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Symphalangism Cushing type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphyseal dysplasia with anaemia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofrontonasal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia 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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