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47078008: Hearing, function (observable entity)


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
78477019 Audition en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
78480018 Hearing en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494748018 Perception of sound en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494749014 Auditory function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203314017 Hearing, function (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2670916014 Hearing, function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
78477019 Audition en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
78477019 Audition en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
78480018 Hearing en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
78480018 Hearing en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494748018 Perception of sound en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
494748018 Perception of sound en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
494749014 Auditory function en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
494749014 Auditory function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784496012 Hearing (function) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203314017 Hearing, function (observable entity) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203314017 Hearing, function (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2670916014 Hearing, function en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2670916014 Hearing, function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
357321000195119 udito it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22201001000112 Hörfunktion de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22591001000117 Auditorische Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22601001000110 Akustische Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22611001000113 Aurale Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22621001000115 Hörvermögen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22631001000117 Klangwahrnehmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295121001000118 Hören de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295131001000115 Gehör de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1972221001000112 Geräuschwahrnehmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12821000077117 audition fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12821000077117 audition fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
357321000195119 udito it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22201001000112 Hörfunktion de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22591001000117 Auditorische Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22601001000110 Akustische Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22611001000113 Aurale Funktion de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22621001000115 Hörvermögen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22631001000117 Klangwahrnehmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295121001000118 Hören de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295131001000115 Gehör de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1972221001000112 Geräuschwahrnehmung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


16 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hearing Is a Special sensory functions (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Traumatic deafness, non-occupational Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Toxic deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Hearing for voice impaired Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Difficulty hearing speech in large group setting (finding) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone conduction deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Auditory neuropathy spectrum disorder (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deafness Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hearing disorder Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Acoustic reflex finding (finding) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness of right ear Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness of left ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Hearing loss of right ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Hearing loss of left ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired sensorineural hearing loss (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept)
Acquired deaf mutism Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deaf mutism Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital prelingual deafness Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept)
Echo in ear (finding) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral tinnitus Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital sensorineural hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Profound sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Ear pit syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Jervell and Lange-Nielsen syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital anomaly of ear with impairment of hearing Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild to moderate hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Rubella deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Perception of hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Sudden sensorineural hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Sellars Beighton syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 7
Epithelio-exfoliative colitis and deafness syndrome Interprets False Hearing 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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Abnormal finding on auditory function study (finding) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Stapes ankylosis with broad thumb and toe syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Cardiospondylocarpofacial syndrome (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Choroideremia with deafness and obesity syndrome Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
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). Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness and intellectual disability Martin Probst type syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Branchiogenic deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
DOORS syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Oculootoradial syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Ocular albinism with late-onset sensorineural deafness (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Albinism with deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract with deafness and hypogonadism syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Acquired hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal renal tubular acidosis co-occurrent with sensorineural deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Ichthyose-Hypotrichose-Syndrom Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Gingival fibromatosis with progressive deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Thickened earlobe with conductive deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Palmoplantar keratoderma with deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 7
Sensorineural hearing loss, early greying, essential tremor syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Nephropathy, deafness, hyperparathyroidism syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypospadias, hypertelorism, coloboma, deafness syndrome Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Sudden idiopathic hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Myoclonus, cerebellar ataxia, deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness, small bowel diverticulosis, neuropathy syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, nephritis, deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Mild acquired hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Moderate acquired hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe acquired hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Profound acquired hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital conductive hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital mixed conductive and sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinitis pigmentosa-deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinitis pigmentosa-deafness-ataxia syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Usher syndrome type 1 Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Usher syndrome type 2 Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Keipert syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4

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