88230002: Disorder of skeletal system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Some
Disorder of skeletal system	Finding site	Skeletal system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital skeletal dysplasia (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Disorder of spine	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Congenital absence of skeletal bone	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Tuberculous osteonecrosis	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Injury to skeleton, as birth trauma	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Cartilage disorder	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Disorder of bone (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Acquired skeletal deformity	Is a	True	Disorder of skeletal system	Inferred relationship	Some
gibbosité acquise	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Skeletal injury due to birth trauma	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Congenital anomaly of thoracic cage	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Fracture dislocation of costovertebral joint	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Neoplasm of skeletal system (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Disseminated idiopathic skeletal hyperostosis	Is a	False	Disorder of skeletal system	Inferred relationship	Some
Congenital absence of cranial vault (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Arthropathy (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
An exceedingly rare, autosomal recessive immune disease characterized 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	Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Disorder of vertebral column (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	Is a	True	Disorder of skeletal system	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.	Is a	True	Disorder of skeletal system	Inferred relationship	Some
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	Some
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	Some
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Bone and/or joint yaws lesions (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Tuberculosis of bones and/or joints	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Infection associated with internal fixation device (disorder)	Is a	True	Disorder of skeletal system	Inferred relationship	Some
Aplasia of bone of axial skeleton	Is a	True	Disorder of skeletal system	Inferred relationship	Some

This concept is not in any reference sets

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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
1873821000195115	disturbo del sistema scheletrico	it	Synonym (core metadata concept)	Active	Entire term case sensitive (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