FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  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
Brachydactyly elbow wrist dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
King Denborough syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscle filaminopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spheroid body myopathy est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie dyssegmentaire type Silverman-Handmaker est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal infantile mitochondrial myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cono-spondylar dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dysplasie spondylo-épimétaphysaire avec luxations multiples est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otopalatodigital syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmin-related myofibrillar myopathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly type B2 (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
myopathie à corps d'inclusion héréditaire type 4 est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Proximal myopathy with extrapyramidal signs est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
dystrophie musculaire distale est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Tetramelic monodactyly est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Rhizomelic syndrome Urbach type est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Postaxial tetramelic oligodactyly est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Ectrodactyly polydactyly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
foramen pariétal avechypoplasie claviculaire est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) est un(e) (attribut) False Hereditary disorder of musculoskeletal system Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
maladie du motoneurone inférieur autosomique récessive de l'enfance est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) True Hereditary disorder of musculoskeletal system Inferred relationship Some

Start Previous Page 8 of 8

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start