FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

88230002: Disorder of skeletal 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
146274012 Disease of bone AND/OR joint en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146275013 Osteoarthropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146277017 Disorder of skeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2468972012 Disorder of skeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
146269016 Disease of skeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146274012 Disease of bone AND/OR joint en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146275013 Osteoarthropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146275013 Osteoarthropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146277017 Disorder of skeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146277017 Disorder of skeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
830870010 Disease of skeletal system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2468972012 Disorder of skeletal system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2468972012 Disorder of skeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4678651000241117 affection du système squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4678651000241117 affection du système squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11572 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of skeletal system Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of skeletal system Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Skeletal dysplasia Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of spine Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skeletal bone Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Avascular necrosis of bone caused by Mycobacterium tuberculosis complex (disorder) Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Injury to skeleton, as birth trauma Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cartilage disorder Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of bone (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acquired skeletal deformity Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
gibbosité acquise Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal injury due to birth trauma (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of thoracic cage (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Fracture dislocation of costovertebral joint Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neoplasm of skeletal system (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Disseminated idiopathic skeletal hyperostosis Is a False Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of cranial vault Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Arthropathy Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of vertebral column (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth syndrome with 2q37 translocation Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bone and/or joint yaws lesions (disorder) Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Tuberculosis of bones and/or joints Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Infection associated with internal fixation device Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of bone of axial skeleton Is a True Disorder of skeletal system Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start