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
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant deafness with onychodystrophy syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Duane retraction syndrome with congenital deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Profound hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cochleovestibular malformation (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Otodental syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Waardenburg syndrome type 3 (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Senter syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Keratitis ichthyosis and deafness syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Postlingual non-syndromic genetic deafness Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Prelingual non-syndromic genetic deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Subjective pulsatile tinnitus Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral subjective pulsatile tinnitus of ears Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Subjective pulsatile tinnitus of left ear Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Subjective pulsatile tinnitus of right ear Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
High frequency sensorineural hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
High frequency conductive hearing loss Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Mondini defect (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Low frequency sensorineural hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Low frequency conductive hearing loss (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Usher syndrome type 1F (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive. Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Wolfram syndrome type 2 Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Misophonia (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 6
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitchell syndrome Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Temporary auditory threshold shift of left ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Temporary auditory threshold shift of right ear (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 2
Inconsistent results on voice testing Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Voice testing inconclusive Interprets False Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Voice testing inconclusive Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 8
Absent acoustic reflex Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Interprets True Hearing Inferred relationship Existential restriction modifier (core metadata concept) 5

Start Previous Page 8 of 8

This concept is not in any reference sets

Back to Start