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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
187166011 Ear-related structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Ear structure Is a Head part false Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure partie de Entire head false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Ear structure partie de Entire auditory system (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Ear structure Laterality Side true Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure Is a Structure of ear, nose, and/or throat true Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure Is a Structure of half of head lateral to midsagittal plane false Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure Is a Auricular region structure true Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure Is a Structure of peripheral auditory system true Inferred relationship Existential restriction modifier (core metadata concept)
Ear structure Is a Structure of sensory organ (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital malformation of eye, ear and neck Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Preauricular sinus, pit or fistula Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Midline cervical cleft (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Preauricular sinus Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Branchial cleft Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ear, face and neck congenital anomalies (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Auriculo-condylar syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Preauricular sinus and fistula Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Human bite of ear region Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Human bite of ear region Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Insect bite of ear region Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ear lesion Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Bacterial ear infection Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-onycho-peroneal syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Infection involving inner ear Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of external auditory canal (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of ear lobe Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of ear (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infective otitis media (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Tuberculosis of ear Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Fungal ear infection Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Endocochlear rubella Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare multiple congenital anomalies syndrome characterised 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 False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Nathalie syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Sellars Beighton syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Abruzzo Erickson syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness and hypogonadism syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Epithelio-exfoliative colitis and deafness syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Cardiospondylocarpofacial syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndrome characterised by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Bosley Salih Alorainy syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Choroideremia with deafness and obesity syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Deaf blind hypopigmentation syndrome Yemenite type Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness and intellectual disability Martin Probst type syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Branchiogenic deafness syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
DOORS syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept)
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
MEDNIK syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary squamous cell carcinoma of ear (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe X-linked intellectual disability Gustavson type (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Gingival fibromatosis with progressive deafness syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Auriculoocular anomaly and cleft lip syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Ramos Arroyo syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Nephropathy, deafness, hyperparathyroidism syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypospadias, hypertelorism, coloboma, deafness syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, short stature, deafness, disorder of sex development syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Fluid specimen from ear (specimen) Specimen source topography True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Myoclonus, cerebellar ataxia, deafness syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Choroideremia with deafness and obesity syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, small bowel diverticulosis, neuropathy syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, nephritis, deafness syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Wolfram-like syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness and hypogonadism syndrome (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Specimen from ear obtained by aspiration Specimen source topography True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Degenerative disorder of ear Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of ear (procedure) Procedure site - Direct (attribute) True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrophy of ear (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital conductive hearing loss Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital mixed conductive and sensorineural hearing loss Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
External hearing aid in situ (finding) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infestation of ear caused by fly larvae (disorder) Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Branchiootic syndrome Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Fungal ear infection Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Postlingual non-syndromic genetic deafness Finding site False Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Branchiootic syndrome Finding site True Ear structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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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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