FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Hirschsprung disease with deafness and polydactyly syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Johnson neuroectodermal syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
MEDNIK syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe X-linked intellectual disability Gustavson type (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Ramos Arroyo syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Coxoauricular syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysmorphism, short stature, deafness, disorder of sex development syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 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). Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Nathalie syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Wolfram-like syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Branchiootic syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Lowe Kohn Cohen syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Wildervanck syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Auditory synaptopathy Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Melnick-Fraser syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Renal tubular acidosis with progressive nerve deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spinocerebellar ataxia type 3 Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Charcot-Marie-Tooth disease type IE (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Senter syndrome Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Keratitis ichthyosis and deafness syndrome Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial amyloid nephropathy with urticaria AND deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Albinism-deafness syndrome of Tietz (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Wolfram syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraparesis and deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniofacial deafness hand syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Emberger syndrome Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Brown-Vialetto-Van Laere syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Myhre syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 7
Auditory dysfunction (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternally inherited diabetes and deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Normal auditory tuning fork test (finding) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Bartter syndrome type 4a (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Bartter syndrome type 4 (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Tonal tinnitus Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial transitory deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Total transitory deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Transitory deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Neural hearing loss of right ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Neural hearing loss of left ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive hearing loss of left ear Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive hearing loss of right ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Waardenburg syndrome type 3 Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Waardenburg syndrome type 1 (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive hearing loss of left ear with normal hearing on right side (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive hearing loss of right ear with normal hearing on left side (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural hearing loss of right ear with normal hearing on left side (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural hearing loss of left ear with normal hearing on right side Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed conductive and sensorineural hearing loss of right ear with normal hearing on left side (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed conductive and sensorineural hearing loss of left ear with normal hearing on right side (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Waardenburg syndrome type 2 (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Sensorineural hearing loss of right ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural hearing loss of left ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural deafness due to late congenital syphilis Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiospondylocarpofacial syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe X-linked intellectual disability Gustavson type (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Beta-D-mannosidosis Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Choroideremia with deafness and obesity syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Mutilating keratoderma Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratoderma hereditarium mutilans with ichthyosis syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Split-foot malformation, mesoaxial polydactyly syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5
Ocular albinism with late-onset sensorineural deafness (disorder) 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 True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Pili torti-deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Auditory perception function (observable entity) Is a True Hearing Inferred relationship Existential restriction modifier (core metadata concept)
Maternal perinatal sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetal sensorineural hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Non-syndromic mitochondrial sensorineural deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3

Start Previous Page 7 of 8 End

This concept is not in any reference sets

Back to Start