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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
Inherited spastic paresis est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysplasia epiphysealis hemimelica est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metachondromatosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pseudodiastrophic dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desbuquois syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de François est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blomstrand dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Raine dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jarcho-Levin syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Larsen syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diastrophic dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Asymmetric crying face association (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmosterolosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Grebe syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Treacher Collins syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dyggve-Melchior-Clausen syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trichorhinophalangeal syndrome type 1 and 3 est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary camptodactyly est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary myopathy associated with hydrocephalus (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
pseudohypoparathyroïdie type 1A (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Achondroplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
maladie de Huntington est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type I (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal Kniest-like syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie de Kniest (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otospondylomegaepiphyseal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rolland-Debuqois syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blount disease est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type D (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type A3 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crouzon syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Kapur Toriello syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bamforth Lazarus syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Weaver Williams syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip retinopathy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Bifid nose (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked cleft palate and ankyloglossia est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis type 3 (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Saethre-Chotzen syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genochondromatosis type 1 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
sialidose dysmorphique, forme infantile est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile systemic hyalinosis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle and heart glycogen synthase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Curry-Hall syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
aspartylglucosaminurie (trouble) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial hypokalemic periodic paralysis est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Floating-Harbour syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial calcium pyrophosphate dihydrate crystal deposition disease est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Symphalangism Cushing type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diaphyseal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ghosal hematodiaphyseal dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

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