66019005: Limb structure (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

\Body part structure\Limb structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Limb structure	Is a	Body part structure	true	Inferred relationship	Some
Limb structure	partie de	Entire body as a whole	false	Additional relationship	Some
Limb structure	Is a	Structure of half of body lateral to midsagittal plane (body structure)	true	Inferred relationship	Some
Limb structure	Laterality	Side (qualifier value)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Longitudinal deficiency of limb	Finding site	False	Limb structure	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Finding site	False	Limb structure	Inferred relationship	Some	4
Congenital bony fusion of phalanges (disorder)	Finding site	False	Limb structure	Inferred relationship	Some	2
Short rib-polydactyly syndrome, non-Majewski type	Finding site	False	Limb structure	Inferred relationship	Some	4
Ectromelia of upper limb	Finding site	False	Limb structure	Inferred relationship	Some	3
Ectrodactyly	Finding site	False	Limb structure	Inferred relationship	Some	2
Congenital complete absence of limb	Finding site	False	Limb structure	Inferred relationship	Some	2
Dimelia	Finding site	False	Limb structure	Inferred relationship	Some	2
Ectromelia	Finding site	False	Limb structure	Inferred relationship	Some	3
Split foot	Finding site	False	Limb structure	Inferred relationship	Some	2
Cleft hand - first cleft	Finding site	False	Limb structure	Inferred relationship	Some	3
Talipes equinus	Finding site	False	Limb structure	Inferred relationship	Some	4
Micromelia	Finding site	False	Limb structure	Inferred relationship	Some	2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Finding site	False	Limb structure	Inferred relationship	Some	3
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	Finding site	False	Limb structure	Inferred relationship	Some	4
Transverse deficiency of arm, upper arm level - long	Finding site	False	Limb structure	Inferred relationship	Some	3
Transverse deficiency of arm, upper arm level - short	Finding site	False	Limb structure	Inferred relationship	Some	3
hémimélie d'un membre supérieur	Finding site	False	Limb structure	Inferred relationship	Some	3
anomalie transverse du bras au niveau de l'avant-bras	Finding site	False	Limb structure	Inferred relationship	Some	3
Brachymetapodia of first metatarsal	Finding site	False	Limb structure	Inferred relationship	Some	4
Brachymetapodia of fourth metatarsal	Finding site	False	Limb structure	Inferred relationship	Some	4
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Roberts-SC phocomelia syndrome	Finding site	False	Limb structure	Inferred relationship	Some	4
Ruvalcaba-Myhre syndrome	Finding site	False	Limb structure	Inferred relationship	Some	3
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Finding site	False	Limb structure	Inferred relationship	Some	3
Stickler syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Mohr syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Finding site	False	Limb structure	Inferred relationship	Some	5
Oral-facial-digital syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Orofacial-digital syndrome III	Finding site	False	Limb structure	Inferred relationship	Some	5
Miller syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Larsen syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Nager syndrome	Finding site	False	Limb structure	Inferred relationship	Some	2
Ruvalcaba syndrome	Finding site	False	Limb structure	Inferred relationship	Some	2
Mietens syndrome	Finding site	False	Limb structure	Inferred relationship	Some	2
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by 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.	Finding site	False	Limb structure	Inferred relationship	Some	5
Multiple malformation syndrome with facial-limb defects as major feature	Finding site	False	Limb structure	Inferred relationship	Some	2
Hay-Wells syndrome of ectodermal dysplasia	Finding site	False	Limb structure	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Finding site	True	Limb structure	Inferred relationship	Some	2
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Finding site	True	Limb structure	Inferred relationship	Some	5
FG syndrome	Finding site	True	Limb structure	Inferred relationship	Some	2
Townes syndrome	Finding site	False	Limb structure	Inferred relationship	Some	2
Oculodento-osseous dysplasia - severe type	Finding site	False	Limb structure	Inferred relationship	Some	3
Oculodentodigital syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
Oculodento-osseous dysplasia - mild type (disorder)	Finding site	False	Limb structure	Inferred relationship	Some	3
A genetic syndrome characterized by the absence of all four limbs.	Finding site	False	Limb structure	Inferred relationship	Some	1
A rare X-linked syndromic intellectual disability characterized by 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. Intellectual disability ranges from mild to severe.	Finding site	False	Limb structure	Inferred relationship	Some	5
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes.	Finding site	False	Limb structure	Inferred relationship	Some	3
Cineplastic amputation with cineplastic prosthesis of extremity	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	3
Anisomelia	Finding site	True	Limb structure	Inferred relationship	Some	1
Phocomelia	Finding site	False	Limb structure	Inferred relationship	Some	3
Notomelus	Finding site	False	Limb structure	Inferred relationship	Some	3
Dimelia	Finding site	False	Limb structure	Inferred relationship	Some	3
Ectromelia	Finding site	False	Limb structure	Inferred relationship	Some	2
Congenital malrotation of limb	Finding site	True	Limb structure	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Finding site	False	Limb structure	Inferred relationship	Some	1
Longitudinal deficiency of foot	Finding site	False	Limb structure	Inferred relationship	Some	3
membre atrophié	Finding site	False	Limb structure	Inferred relationship	Some	3
Roberts-SC phocomelia syndrome	Finding site	False	Limb structure	Inferred relationship	Some	5
microsomie partielle	Finding site	False	Limb structure	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	False	Limb structure	Inferred relationship	Some	1
Micromelia	Finding site	False	Limb structure	Inferred relationship	Some	3
Polymelia	Finding site	False	Limb structure	Inferred relationship	Some	3
Congenital hyperextension of limb	Finding site	False	Limb structure	Inferred relationship	Some	3
Constricting band of extremity (disorder)	Finding site	False	Limb structure	Inferred relationship	Some	3
Congenital hyperflexion of limb	Finding site	False	Limb structure	Inferred relationship	Some	3
Biopsy of limb (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Fluoroscopy guided drainage of limb	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	2
Fluoroscopy guided drainage of limb	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	3
Ultrasonography guided drainage of limb	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	2
Ultrasonography guided drainage of limb	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	3
CT of limb with contrast	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Aspiration of limb using ultrasonographic guidance (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	2
Aspiration of limb using ultrasonographic guidance (procedure)	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	3
Magnetic resonance imaging of limb with contrast (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Fluoroscopic fistulography of limb with contrast (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Biopsy of limb using computed tomography guidance (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	2
Biopsy of limb using computed tomography guidance (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	3
Ultrasonography of limb	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Forearm tendon exteriorization cineplasty	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	4
Plain X-ray of limb (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	1
Cineplasty with cineplastic prosthesis of lower extremity	Procedure site - Indirect (attribute)	False	Limb structure	Inferred relationship	Some	4
Gas gangrene of limb	Finding site	True	Limb structure	Inferred relationship	Some	3
Biopsy of limb using ultrasound guidance (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	2
Biopsy of limb using ultrasound guidance (procedure)	Procedure site - Direct (attribute)	True	Limb structure	Inferred relationship	Some	3
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	Finding site	True	Limb structure	Inferred relationship	Some	2
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Finding site	False	Limb structure	Inferred relationship	Some	5
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Finding site	True	Limb structure	Inferred relationship	Some	3
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.	Finding site	True	Limb structure	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Finding site	True	Limb structure	Inferred relationship	Some	3
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.	Finding site	False	Limb structure	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Finding site	False	Limb structure	Inferred relationship	Some	5
Micromelic spondyloepimetaphyseal dysplasia	Finding site	False	Limb structure	Inferred relationship	Some	5
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Finding site	False	Limb structure	Inferred relationship	Some	5
Micromelic spondyloepimetaphyseal dysplasia	Finding site	False	Limb structure	Inferred relationship	Some	4
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Finding site	True	Limb structure	Inferred relationship	Some	3
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Finding site	False	Limb structure	Inferred relationship	Some	6
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.	Finding site	False	Limb structure	Inferred relationship	Some	3
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Finding site	True	Limb structure	Inferred relationship	Some	2
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Finding site	False	Limb structure	Inferred relationship	Some	6
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	Finding site	True	Limb structure	Inferred relationship	Some	3

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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

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Id	Description	Lang	Type	Status	Case?	Module
109632014	Extremity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
109635011	Limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500287017	Limb structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
805586013	Limb structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
302261000077111	structure d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918761000172119	structure du membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952901000172111	membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
164341000274118	Extremität	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1054791000195112	Gliedmasse	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module