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281242000: Musculoskeletal structure of limb (body structure)

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

6090 descendants. Search Descendants:

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 partie de Entire body as a whole false Additional relationship Some
Musculoskeletal structure of limb Laterality Side (qualifier value) 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
croissance partielle d'un membre entier Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malformation syndromes involving limbs 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
membre atrophié Finding site False Musculoskeletal structure of limb Inferred relationship Some 1
Other congenital limb anomalies Finding site False Musculoskeletal structure of limb Inferred relationship Some
Supernumerary digits, unspecified Finding site False Musculoskeletal structure of limb Inferred relationship Some
Polydactyly NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Reduction deformity of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital absence of limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Amelia of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ectromelia of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Hemimelia of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Phocomelia of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital amputation of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Longitudinal reduction deformity of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other specified reduction deformities of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Brachymelia NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other reduction deformity of unspecified limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other duplication of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Duplication of limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other overgrowth of limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other undergrowth of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other undergrowth of limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other specified anomalies of unspecified limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Other anomaly of unspecified limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital anomaly of unspecified limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malformation syndrome involving limbs NOS 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
Hypoplasia of limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital absence of digits NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Reduction deformity of unspecified limb NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some
Musculoskeletal system amputation 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
Musculoskeletal system disarticulation 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
angiodysplasie ostéodystrophique Finding site False Musculoskeletal structure of limb Inferred relationship Some 2
Musculoskeletal system amputation Procedure site - Direct (attribute) False Musculoskeletal structure of limb Inferred relationship Some 1
Musculoskeletal system disarticulation Procedure site - Direct (attribute) False Musculoskeletal structure of limb Inferred relationship Some 1
Congenital malformation syndromes involving limbs 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
membre atrophié Finding site False Musculoskeletal structure of limb Inferred relationship Some 1
Congenital malformation syndrome involving limbs NOS Finding site False Musculoskeletal structure of limb Inferred relationship Some 1
angiodysplasie ostéodystrophique 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
Musculoskeletal system disarticulation 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
angiodysplasie ostéodystrophique Finding site False Musculoskeletal structure of limb Inferred relationship Some 1
Congenital malformation syndromes involving limbs 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
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. 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
Synovial structure of limb Is a False Musculoskeletal structure of limb Inferred relationship Some
Joint structure of limb (body structure) Is a True Musculoskeletal structure of limb Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). 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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