243996003: Entire limb (body structure)

SNOMED CT Concept\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

3863361000005111 ekstremitet som helhed 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
Entire limb	Is a	Limb structure	true	Inferred relationship	Some
Entire limb	Is a	legemsdel som helhed	false	Inferred relationship	Some
Entire limb	del af	Entire body as a whole	false	Additional relationship	Some
Entire limb	Laterality	Side	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire upper limb	Is a	True	Entire limb	Inferred relationship	Some
Entire lower limb (body structure)	Is a	True	Entire limb	Inferred relationship	Some
menneskenegl som helhed	del af	False	Entire limb	Additional relationship	Some
patella (hos hest)	del af	False	Entire limb	Additional relationship	Some
Entire skin of extremity	del af	False	Entire limb	Additional relationship	Some
Skin of digit	del af	False	Entire limb	Additional relationship	Some
Skin of interdigital web	del af	False	Entire limb	Additional relationship	Some
Periungual skin structure (body structure)	del af	False	Entire limb	Additional relationship	Some
Skin of part of digit	del af	False	Entire limb	Additional relationship	Some
Skin of part of interdigital web	del af	False	Entire limb	Additional relationship	Some
Skin structure of extremity	del af	False	Entire limb	Additional relationship	Some
Entire interdigital space	del af	False	Entire limb	Additional relationship	Some
Entire hair of extremity	del af	False	Entire limb	Additional relationship	Some
huden som helhed på hånd og fod	del af	False	Entire limb	Additional relationship	Some
Entire bone of extremity	del af	False	Entire limb	Additional relationship	Some
Skin of part of limb	del af	False	Entire limb	Additional relationship	Some
Nail plate is the horny translucent plate of nail unit.	del af	False	Entire limb	Inferred relationship	Some
Extremity part (body structure)	del af	False	Entire limb	Additional relationship	Some
Entire digit	del af	False	Entire limb	Additional relationship	Some
Dewclaw of hindlimb	del af	False	Entire limb	Additional relationship	Some
hudstruktur på hånd og fod	del af	False	Entire limb	Additional relationship	Some
Bone structure of extremity	del af	False	Entire limb	Additional relationship	Some
Structure of interdigital space	del af	False	Entire limb	Additional relationship	Some
Dewclaw of forelimb	del af	False	Entire limb	Additional relationship	Some
Neglestruktur	del af	False	Entire limb	Additional relationship	Some
Structure of hair of extremity	del af	False	Entire limb	Additional relationship	Some
Digit structure	del af	False	Entire limb	Additional relationship	Some
Paw	del af	False	Entire limb	Additional relationship	Some
Duplication of whole limb	Finding site	False	Entire limb	Inferred relationship	Some
underudvikling af hel arm eller ben	Finding site	False	Entire limb	Inferred relationship	Some
Specified nail NEC	del af	False	Entire limb	Additional relationship	Some
Nail NEC	del af	False	Entire limb	Additional relationship	Some
duplikation af arm eller ben, ikke nærmere specificeret	Finding site	False	Entire limb	Inferred relationship	Some
anden underudvikling af arm eller ben, ikke nærmere specificeret	Finding site	False	Entire limb	Inferred relationship	Some
Entire skin of lower extremity	del af	False	Entire limb	Additional relationship	Some
Musculoskeletal system structure of digit (body structure)	del af	False	Entire limb	Additional relationship	Some
Skin structure of lower limb (body structure)	del af	False	Entire limb	Additional relationship	Some
Entire nail plate (body structure)	del af	False	Entire limb	Inferred relationship	Some
Joint structure of digit (body structure)	del af	False	Entire limb	Additional relationship	Some
Forfod	del af	False	Entire limb	Additional relationship	Some
Pastern region	del af	False	Entire limb	Additional relationship	Some
Medial splint bone of equine limb	del af	False	Entire limb	Additional relationship	Some
forpibeområde af forben på hest	del af	False	Entire limb	Additional relationship	Some
forpibeområde af bagben på hest	del af	False	Entire limb	Additional relationship	Some
Cannon region of equine limb	del af	False	Entire limb	Additional relationship	Some
Navicular bursa of equine foot	del af	False	Entire limb	Additional relationship	Some
nervi digitales palmares i forben på hest	del af	False	Entire limb	Additional relationship	Some
Second metapodal of equine limb	del af	False	Entire limb	Additional relationship	Some
Second metapodal of equine hindlimb	del af	False	Entire limb	Additional relationship	Some
Second metapodal of equine forelimb	del af	False	Entire limb	Additional relationship	Some
Second interphalangeal joint of digit III of equine forelimb	del af	False	Entire limb	Additional relationship	Some
Proximal sesamoid of equine limb	del af	False	Entire limb	Additional relationship	Some
Third metapodal of equine limb	del af	False	Entire limb	Additional relationship	Some
Proximal sesamoid of equine forelimb	del af	False	Entire limb	Additional relationship	Some
Pastern region of equine limb	del af	False	Entire limb	Additional relationship	Some
Pastern region of equine hindlimb	del af	False	Entire limb	Additional relationship	Some
Pastern region of equine forelimb	del af	False	Entire limb	Additional relationship	Some
Palmar digital nerve of equine limb	del af	False	Entire limb	Additional relationship	Some
Navicular bursa of equine forefoot	del af	False	Entire limb	Additional relationship	Some
Second interphalangeal joint of equine digit III	del af	False	Entire limb	Additional relationship	Some
Second interphalangeal joint of digit III of equine hindlimb	del af	False	Entire limb	Additional relationship	Some
Edema of entire limb (finding)	Finding site	False	Entire limb	Inferred relationship	Some	1
Edema of entire limb (finding)	Finding site	True	Entire limb	Inferred relationship	Some	1
Duplication of whole limb	Finding site	True	Entire limb	Inferred relationship	Some	1
Congenital complete absence of limb	Finding site	True	Entire limb	Inferred relationship	Some	1
Meromikrosomi	Finding site	False	Entire limb	Inferred relationship	Some	2
Ectromelia	Finding site	True	Entire limb	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	False	Entire limb	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome (disorder)	Finding site	True	Entire limb	Inferred relationship	Some	2
Micromelia	Finding site	False	Entire limb	Inferred relationship	Some	2
vissen ekstremitet	Finding site	False	Entire limb	Inferred relationship	Some	2
An extremely rare polymalformative syndrome.	Finding site	False	Entire limb	Inferred relationship	Some	4
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	Finding site	False	Entire limb	Inferred relationship	Some	4
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	Finding site	True	Entire limb	Inferred relationship	Some	3
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Finding site	False	Entire limb	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.	Finding site	False	Entire limb	Inferred relationship	Some	4
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Finding site	False	Entire limb	Inferred relationship	Some	6
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.	Finding site	False	Entire limb	Inferred relationship	Some	3
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.	Finding site	False	Entire limb	Inferred relationship	Some	7
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Finding site	False	Entire limb	Inferred relationship	Some	4
Micromelia	Finding site	True	Entire limb	Inferred relationship	Some	1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Finding site	False	Entire limb	Inferred relationship	Some	7
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	False	Entire limb	Inferred relationship	Some	5
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Finding site	False	Entire limb	Inferred relationship	Some	9
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Finding site	True	Entire limb	Inferred relationship	Some	2
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Finding site	False	Entire limb	Inferred relationship	Some	4
Acquired absence of entire limb (disorder)	Finding site	True	Entire limb	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	Finding site	True	Entire limb	Inferred relationship	Some	3
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	Finding site	True	Entire limb	Inferred relationship	Some	1
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	Finding site	True	Entire limb	Inferred relationship	Some	1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Finding site	True	Entire limb	Inferred relationship	Some	1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.	Finding site	True	Entire limb	Inferred relationship	Some	3
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Finding site	True	Entire limb	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.	Finding site	True	Entire limb	Inferred relationship	Some	1
An extremely rare polymalformative syndrome.	Finding site	True	Entire limb	Inferred relationship	Some	1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Finding site	True	Entire limb	Inferred relationship	Some	2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Finding site	True	Entire limb	Inferred relationship	Some	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.	Finding site	True	Entire limb	Inferred relationship	Some	1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Finding site	True	Entire limb	Inferred relationship	Some	4
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Finding site	True	Entire limb	Inferred relationship	Some	1
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

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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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
3863361000005111	ekstremitet som helhed	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)