281242000: Musculoskeletal structure of limb (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body system structure\Structure of musculoskeletal system (body structure)\Structure of regional musculoskeletal system (body structure)\Musculoskeletal structure of limb

\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Musculoskeletal structure of limb
\Body region structure\Structure of regional musculoskeletal system (body structure)\Musculoskeletal structure of limb
\Body region structure\Body part structure\Limb structure\Musculoskeletal structure of limb

Status: current, Not 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

419216011 Musculoskeletal structure of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

674755015 Musculoskeletal structure of limb (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4596821000005119 muskuloskeletal struktur i ekstremitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Musculoskeletal structure of limb	Is a	Limb structure	true	Inferred relationship	Some
Musculoskeletal structure of limb	Is a	Structure of regional musculoskeletal system (body structure)	true	Inferred relationship	Some
Musculoskeletal structure of limb	del af	Entire body as a whole	false	Additional relationship	Some
Musculoskeletal structure of limb	Laterality	Side	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malrotation of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital thickening of forepaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital thickening of hindpaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Microdactyly	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Flexion deformity	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Duplication of whole limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
underudvikling af hel arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Aglossia-adactyly syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Multiple pterygium syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Dislocations, sprains and strains involving multiple regions of upper limb(s) and lower limb(s)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
vissen ekstremitet	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
andre kongenitte arm- eller benanomalier	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
overtallige fingre eller tæer, uspecificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
polydaktyli, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
reduktionsdeformitet af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Kongenit manglende arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ameli af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ektromeli af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
hemimeli af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
fokomeli af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Kongenit amputation af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
longitudinel reduktionsdeformitet af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Andre specificerede reduktionsdeformiteter af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
brakymeli, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
anden reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
anden duplikation af arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
duplikation af arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Anden overudvikling af arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
anden underudvikling af arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
anden underudvikling af arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Andre specificerede anomalier af uspecificeret arm eller ben	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
anden anomali af uspecificeret arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
kongenit anomali af uspecificeret arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Kongenit misdannelsessyndrom, der involverer ekstremiteter, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
[X]Other reduction defects of unspecified limb(s)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
[X]Other specified congenital malformations of limb(s)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Hypoplasi i arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
kongenit manglende fingre eller tæer, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Musculoskeletal system amputation (procedure)	Procedure site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Brachydactyly syndrome type C (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
eksartikulation i det muskuloskeletale system	Procedure site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Brachydactyly syndrome type E	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Structure of fascial compartment of limb (body structure)	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Klippel-Trénaunay-Webers syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Musculoskeletal system amputation (procedure)	Procedure site - Direct (attribute)	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
eksartikulation i det muskuloskeletale system	Procedure site - Direct (attribute)	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Flexion deformity	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	True	Musculoskeletal structure of limb	Inferred relationship	Some	1
Multiple pterygium syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
Trichorhinophalangeal dysplasia type I	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
vissen ekstremitet	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Kongenit misdannelsessyndrom, der involverer ekstremiteter, ikke nærmere specificeret	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Klippel-Trénaunay-Webers syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Dislocations, sprains and strains involving multiple regions of upper limb(s) and lower limb(s)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Langer-Giedion syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
eksartikulation i det muskuloskeletale system	Procedure site - Direct (attribute)	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Klippel-Trénaunay-Webers syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type I	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Mass in muscle of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Skeletal muscle structure of limb (body structure)	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Entire musculoskeletal system of limb (body structure)	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	1
Grebe syndrome	Finding site	True	Musculoskeletal structure of limb	Inferred relationship	Some	1
Synovialisstruktur i ekstremitet	Is a	False	Musculoskeletal structure of limb	Inferred relationship	Some
Joint structure of limb	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant.	Finding site	True	Musculoskeletal structure of limb	Inferred relationship	Some	1
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
Chronic primary musculoskeletal limb pain	Finding site	True	Musculoskeletal structure of limb	Inferred relationship	Some	2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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Id	Description	Lang	Type	Status	Case?	Module
419216011	Musculoskeletal structure of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
674755015	Musculoskeletal structure of limb (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4596821000005119	muskuloskeletal struktur i ekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)