FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

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
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular dystrophy Selcen type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Native American myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracolaryngopelvic dysplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Grant syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile malignant osteopetrosis est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
8q13 microdeletion syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Keutel syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism Teebi type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
scaphocéphalie familiale type McGillivray est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant osteopetrosis type 2 (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Crisponi syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniomicromelic syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
raccourcissement congénital du ligament costo-coracoïde est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Omodysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Familial chondromalacia of patella (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature locking fingers syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Coxoauricular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Banki est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dystrophie thoracique asphyxiante est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Long thumb brachydactyly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Van den Bosch syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Summitt syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
SCARF syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Vitamin D-dependent rickets est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Goldenhar syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Geroderma osteodysplastica est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with myasthenic-like onset (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dyskinésie familiale avec myokymie faciale est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Velofacioskeletal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Keipert syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloperipheral dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Myosclerosis (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

Start Previous Page 7 of 8 End


Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start