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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
Desmosterolosis (disorder) 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
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) 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 (disorder) 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 hypophosphatemic 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 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A3 (disorder) 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 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) 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 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Kapur Toriello syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Weaver Williams syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) 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
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bifid nose (disorder) 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
de Barsey syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis type 3 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) 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 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle and heart glycogen synthase deficiency (disorder) 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 hypokalemic 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 (disorder) 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
Acromesomelic dysplasia Hunter-Thompson type (disorder) 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
Ghosal hematodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type (disorder) 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 (disorder) 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
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
SIX homeobox 2-related frontonasal dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined oxidative phosphorylation defect type 30 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe X-linked myotubular myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
NEK9-related lethal skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sugarman brachydactyly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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