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117590005: Ear structure (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
187166011 Ear-related structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
436260016 Ear structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
691033011 Ear structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4042147015 Ear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1001861000241115 oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002221000241116 structure de l'oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


872 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ear structure Is a Structure of auditory system (body structure) false Inferred relationship Some
Ear structure Is a Head part false Inferred relationship Some
Ear structure partie de Entire head false Additional relationship Some
Ear structure partie de Entire auditory system false Additional relationship Some
Ear structure Laterality Side (qualifier value) true Inferred relationship Some
Ear structure Is a Structure of ear, nose, and/or throat true Inferred relationship Some
Ear structure Is a Structure of half of head lateral to midsagittal plane (body structure) false Inferred relationship Some
Ear structure Is a Auricular region structure (body structure) true Inferred relationship Some
Ear structure Is a Structure of peripheral auditory system true Inferred relationship Some
Ear structure Is a Structure of sensory organ true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). Finding site True Ear structure Inferred relationship Some 1
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. Finding site True Ear structure Inferred relationship Some 2
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Finding site True Ear structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. Finding site True Ear structure Inferred relationship Some 3
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. Finding site True Ear structure Inferred relationship Some 3
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. Finding site True Ear structure Inferred relationship Some 1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Finding site False Ear structure Inferred relationship Some 3
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). Finding site False Ear structure Inferred relationship Some 2
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Finding site False Ear structure Inferred relationship Some 4
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Finding site False Ear structure Inferred relationship Some 4
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. Finding site True Ear structure Inferred relationship Some 3
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. Finding site True Ear structure Inferred relationship Some 1
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 Ear structure Inferred relationship Some 1
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 Ear structure Inferred relationship Some 3
Otopalatodigital syndrome Finding site False Ear structure Inferred relationship Some 1
Otopalatodigital syndrome Finding site False Ear structure Inferred relationship Some 5
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Finding site False Ear structure Inferred relationship Some 5
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Finding site True Ear structure Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site True Ear structure Inferred relationship Some 3
Viral ear infection Finding site True Ear structure Inferred relationship Some 1
Auriculo-condylar syndrome Finding site True Ear structure Inferred relationship Some 1
Oto-onycho-peroneal syndrome Finding site True Ear structure Inferred relationship Some 3
Auriculoocular anomaly and cleft lip syndrome Finding site False Ear structure Inferred relationship Some 2
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Finding site True Ear structure Inferred relationship Some 1
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. Finding site True Ear structure Inferred relationship Some 1
Ear, face and neck congenital anomalies Finding site True Ear structure Inferred relationship Some 1
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. Finding site True Ear 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 True Ear structure Inferred relationship Some 4
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Finding site True Ear structure Inferred relationship Some 1
Congenital conductive hearing loss Finding site True Ear structure Inferred relationship Some 1
Neoplasm of uncertain behavior of ear (disorder) Finding site True Ear structure Inferred relationship Some 1
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Finding site True Ear structure Inferred relationship Some 4
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. Finding site True Ear structure Inferred relationship Some 3
Temporo-auro-mandibular dysostosis Finding site True Ear structure Inferred relationship Some 3
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Finding site True Ear structure Inferred relationship Some 2
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. Finding site True Ear structure Inferred relationship Some 2
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. Finding site False Ear structure Inferred relationship Some 1
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. Finding site True Ear structure Inferred relationship Some 4
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. Finding site True Ear structure Inferred relationship Some 1
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Finding site False Ear structure Inferred relationship Some 5
A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. Finding site True Ear structure Inferred relationship Some 2
Ear discharge (finding) Finding site True Ear structure Inferred relationship Some 1
Fresh blood in external ear canal Finding site False Ear structure Inferred relationship Some 1
Dried blood in external ear canal Finding site False Ear structure Inferred relationship Some 1
Blood in ear canal Finding site False Ear structure Inferred relationship Some 2
On examination - blood from ear Finding site False Ear structure Inferred relationship Some 1
Blood discharge from ear Finding site True Ear structure Inferred relationship Some 1
à l'examen : écoulement séreux d'une oreille Finding site False Ear structure Inferred relationship Some 1
à l'examen : écoulement cireux d'une oreille Finding site False Ear structure Inferred relationship Some 1
On examination - bloodstained ear discharge Finding site False Ear structure Inferred relationship Some 1
Fishing hook in ear region Finding site True Ear structure Inferred relationship Some 1
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Finding site True Ear structure Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. Finding site False Ear structure Inferred relationship Some 3
Ear discharge symptoms (finding) Finding site True Ear structure Inferred relationship Some 2
On examination - discharge from ear Finding site False Ear structure Inferred relationship Some 3
à l'examen : sang dans le méat acoustique Finding site False Ear structure Inferred relationship Some 3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. Finding site True Ear structure Inferred relationship Some 2
Dissociative deafness Finding site True Ear structure Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Finding site True Ear structure Inferred relationship Some 4
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Finding site True Ear structure Inferred relationship Some 4
Hemorrhagic otitis externa Finding site False Ear structure Inferred relationship Some 2
Waxy discharge from ear Finding site True Ear structure Inferred relationship Some 1
Myhre syndrome Finding site True Ear structure Inferred relationship Some 2
Fetal ear palpable vaginally Finding site True Ear structure Inferred relationship Some 2
Anomaly of fetal ear Finding site True Ear structure Inferred relationship Some 1
Foreign body in skin of ear with infection Finding site False Ear structure Inferred relationship Some 1
Congenital short ear Finding site True Ear structure Inferred relationship Some 1
Effects of high altitude on ears Finding site True Ear structure Inferred relationship Some 1
Waardenburg syndrome type 3 Finding site False Ear structure Inferred relationship Some 2
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Finding site False Ear structure Inferred relationship Some 2
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Finding site False Ear structure Inferred relationship Some 2
Autologous graft of rib cartilage to ear (procedure) Procedure site - Direct (attribute) False Ear structure Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Finding site True Ear structure Inferred relationship Some 5
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Finding site True Ear structure Inferred relationship Some 4
Congenital mixed conductive and sensorineural hearing loss Finding site True Ear structure Inferred relationship Some 1
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. Finding site True Ear structure Inferred relationship Some 1
Invasive aural aspergillosis Finding site True Ear structure Inferred relationship Some 1
albinisme oculaire avec surdité neurosensorielle congénitale Finding site False Ear structure Inferred relationship Some 1
Cerebrospinal fluid otorrhea due to encephalocele (disorder) Finding site True Ear structure Inferred relationship Some 2
Cerebrospinal fluid otorrhea due to congenital deformity of labyrinth (disorder) Finding site True Ear structure Inferred relationship Some 2
Cerebrospinal fluid otorrhea due to giant arachnoid granulation (disorder) Finding site True Ear structure Inferred relationship Some 2
Cerebrospinal fluid otorrhea due to otitis media (disorder) Finding site True Ear structure Inferred relationship Some 2
Taking ear swab Procedure site - Indirect (attribute) True Ear structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Finding site True Ear structure Inferred relationship Some 3
High frequency conductive hearing loss (disorder) Finding site True Ear structure Inferred relationship Some 1
Low frequency conductive hearing loss (disorder) Finding site True Ear structure Inferred relationship Some 1
Ear care Procedure site - Direct (attribute) True Ear structure Inferred relationship Some 1
Autologous graft of rib cartilage to ear (procedure) Procedure site - Direct (attribute) True Ear structure Inferred relationship Some 1
Grafting of ear cartilage to ear (procedure) Procedure site - Direct (attribute) True Ear structure Inferred relationship Some 1
Plain X-ray of ear Procedure site - Direct (attribute) True Ear structure Inferred relationship Some 1
Benign glomus tumor of ear (disorder) Finding site True Ear structure Inferred relationship Some 1
Frostbite of ear Finding site True Ear structure Inferred relationship Some 1
Tissue necrosis of ear due to and following frostbite (disorder) Finding site True Ear structure Inferred relationship Some 1
Tissue necrosis of ear due to and following frostbite (disorder) Finding site True Ear structure 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)

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

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