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
Musculoskeletal structure of upper limb	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
Musculoskeletal structure of lower limb	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
Musculoskeletal system structure of digit (body structure)	Is a	True	Musculoskeletal structure of limb	Inferred relationship	Some
Agenesi af begge forpoter og begge bagpoter	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Hexadactyly	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Talipes equinus	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Orofacial-digital syndrome III	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Orofacial-digital syndrome IV	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Syndactyly	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Adactylia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Acromicric dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Finding site	True	Musculoskeletal structure of limb	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Cranioectodermal dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Oculodento-osseous dysplasia - severe type	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Oculodento-osseous dysplasia - mild type	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Pseudohypoparatyroidisme og pseudopseudohypoparatyroidisme, type I	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Acromesomelic dysplasia syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
A rare X-linked syndromic intellectual disability with characteristics of 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. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Posttraumatic osteoporosis	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Mohr syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Trichorhinophalangeal syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Anisomelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Phocomelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Meromikrosomi	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Townes syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Geleophysic dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	2
Notomelus (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ruvalcaba syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
hemimeli	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Dimelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Nager syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Oculodentodigital syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Polydactyly	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Mietens syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Langer-Giedion syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some	3
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ectromelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ruvalcaba-Myhres syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital macrodactyly (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
FG syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Oral-facial-digital syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Hay-Wells syndrome of ectodermal dysplasia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Partial congenital absence of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital anomaly of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital complete absence of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Larsen syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Aperts syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Miller syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Acrodysostosis	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Longitudinal deficiency of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Limb reduction-ichthyosis syndrome (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Absent finger	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Mousepox	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Micromelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Brachymegalodactyly	Finding site	False	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
Grebe syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Stickler syndrome	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Ectrodactyly	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Shprintzens syndrom	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Splayleg in piglets	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Polymelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital absence of claw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital absence of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital abnormal shape of digit	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital abnormal shape of forepaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital abnormal shape of hindpaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Kongenit ankylodaktyli	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital anomaly of claw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital anomaly of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital clubbed paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hyperextension of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Macromelia	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hyperextension of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hyperflexion of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hyperflexion of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hypoplasia of claw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital hypoplasia of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malposition of claw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malposition of digit	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malposition of forepaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malposition of hindpaw phalanx	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malposition of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malrotation of claw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malrotation of limb	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some
Congenital malrotation of paw	Finding site	False	Musculoskeletal structure of limb	Inferred relationship	Some

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

Back to Start

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)