113192009: Skeletal system structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Body system structure\Structure of musculoskeletal system\Skeletal system structure

Status: current, Not 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
Skeletal system structure	Is a	Structure of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal system structure	partie de	Entire musculoskeletal system	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Marshall-Smith syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Finding site	False	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Structure of bony skeleton	Is a	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)
Proteus syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Port-wine stain in proteus syndrome (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal dominant Robinow syndrome (disorder)	Finding site	False	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive Robinow syndrome	Finding site	False	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Assessment of bone age using Tanner-Whitehouse 2 method (procedure)	Procedure site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tanner-Whitehouse 3 bone age assessment	Procedure site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tanner-Whitehouse 2 RUS (radius-ulna-short bones) bone age assessment	Procedure site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Surgical procedure on skeletal system	Procedure site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Overgrowth syndrome with 2q37 translocation	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Kosaki overgrowth syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
NIMA related kinase 9 lethal skeletal dysplasia (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hallermann Streiff like syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Severe myopia, generalized joint laxity, short stature syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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.	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteofibrous dysplasia (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Regressive spondylometaphyseal dysplasia (disorder)	Finding site	False	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Coffin-Lowry syndrome (disorder)	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylometaphyseal dysplasia, corneal dystrophy syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Postmortem plain X-ray of skeletal system (procedure)	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Plain X-ray of skeletal system	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Finding site	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Internal fixation using staple (procedure)	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Internal skeletal fixation	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary fusion of joint and internal fixation	Procedure site - Direct (attribute)	False	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fusion of joint and internal fixation	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bone and/or joint structure (body structure)	Is a	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)
Imaging of skeletal system	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fluoroscopy of skeletal system (procedure)	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Computed tomography of skeletal system (procedure)	Procedure site - Direct (attribute)	True	Skeletal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
186922018	Skeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190686012	Skeleton	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
381551010	Skeletal system structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
647277018	Skeletal system structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
186922018	Skeletal system	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
186922018	Skeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190686012	Skeleton	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190686012	Skeleton	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
381551010	Skeletal system structure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
381551010	Skeletal system structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
647277018	Skeletal system structure (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
647277018	Skeletal system structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5687981000241119	structure du système squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5687991000241117	système squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5688001000241110	squelette	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5687981000241119	structure du système squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5687991000241117	système squelettique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5688001000241110	squelette	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module