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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
Desmosterolosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Grebe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short rib-polydactyly syndrome, Majewski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Marshall-Smith syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Treacher Collins syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dyggve-Melchior-Clausen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Trichorhinophalangeal syndrome type 1 and 3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary camptodactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary myopathy associated with hydrocephalus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Achondroplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Huntington's chorea Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type I Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal Kniest-like syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kniest dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Otospondylomegaepiphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Proteus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Rolland-Debuqois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Blount disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly type D Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly type A3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Crouzon syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bilateral microtia with deafness and cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial median cleft of upper and lower lip Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal omphalocele with cleft palate syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft palate with stapes fixation and oligodontia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kapur Toriello syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bamforth Lazarus syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Weaver Williams syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft lip retinopathy syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with ectodermal dysplasia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Bifid nose Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked cleft palate and ankyloglossia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cutis laxa-corneal clouding-oligophrenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Distal arthrogryposis type 3 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Saethre-Chotzen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Genochondromatosis type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type 5 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dysmorphic sialidosis, infantile form Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Infantile systemic hyalinosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Trigonocephaly with bifid nose and acral anomaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Curry-Hall syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Aspartylglucosaminuria Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial hypokalemic periodic paralysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Floating-Harbor syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acromesomelic dysplasia Hunter-Thompson type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Proximal interphalangeal joint symphalangism Cushing type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ghosal hematodiaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, X-linked recessive type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 30 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe X-linked myotubular myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Sugarman brachydactyly Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Seizures, scoliosis, macrocephaly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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