243996003: Entire limb (body structure)

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

\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Entire limb

\Body part structure\Limb structure\Entire 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

364884010 Entire limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

633759011 Entire limb (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1105941000241119 membre entier fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Entire limb	Is a	Limb structure	true	Inferred relationship	Some
Entire limb	Is a	Entire body part	false	Inferred relationship	Some
Entire limb	partie de	Entire body as a whole	false	Additional relationship	Some
Entire limb	Laterality	Side (qualifier value)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.	Finding site	True	Entire limb	Inferred relationship	Some	2
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.	Finding site	True	Entire limb	Inferred relationship	Some	1
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	Finding site	True	Entire limb	Inferred relationship	Some	2
Diastrophic dysplasia	Finding site	True	Entire limb	Inferred relationship	Some	2
Macromelia	Finding site	True	Entire limb	Inferred relationship	Some	1
Micromelic dwarfism Fryn type	Finding site	True	Entire limb	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	True	Entire limb	Inferred relationship	Some	1
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.	Finding site	True	Entire limb	Inferred relationship	Some	3
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	Finding site	True	Entire limb	Inferred relationship	Some	2
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.	Finding site	True	Entire limb	Inferred relationship	Some	3
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.	Finding site	True	Entire limb	Inferred relationship	Some	2
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.	Finding site	True	Entire limb	Inferred relationship	Some	1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)