60700002: Sensorineural hearing loss (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss

\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sensorineural hearing loss	Is a	Hearing loss	true	Inferred relationship	Some
Sensorineural hearing loss	Interprets	Hearing	false	Inferred relationship	Some
Sensorineural hearing loss	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Sensorineural hearing loss	Finding site	Inner ear structure	false	Inferred relationship	Some
Sensorineural hearing loss	Interprets	Ability to hear	false	Inferred relationship	Some
Sensorineural hearing loss	Interprets	entité observable fonctionnelle	false	Inferred relationship	Some
Sensorineural hearing loss	Is a	Disorder of inner ear	false	Inferred relationship	Some
Sensorineural hearing loss	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Sensorineural hearing loss	Interprets	Hearing	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dominant sensorineural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
X-linked sensorineural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Recessive sensorineural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Perinatal sensorineural hearing loss	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Postnatal acquired sensorineural hearing loss	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
surdité pour fréquences basses	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Presbycusis	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural hearing loss of combined sites	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Central hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Mid frequency deafness	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Neural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Mixed conductive AND sensorineural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensory hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural hearing loss of bilateral ears	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Unilateral sensorineural hearing loss with unrestricted hearing on the contralateral side	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Combined perceptive hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
surdité aux hautes fréquences	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Ototoxicity - deafness	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Unspecified perceptive hearing loss	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Perceptive hearing loss NOS	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Postoperative profound sensorineural hearing loss	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Autoimmune sensorineural hearing loss (disorder)	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Asymmetrical sensorineural hearing loss (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Acquired sensorineural hearing loss (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Congenital sensorineural hearing loss (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Profound sensorineural hearing loss	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Rubella deafness	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Alstrom syndrome	Has definitional manifestation	False	Sensorineural hearing loss	Inferred relationship	Some
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized 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.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Sudden sensorineural hearing loss (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Epithelio-exfoliative colitis and deafness syndrome	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare genetic disease characterized 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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
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).	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Inherited distal renal tubular acidosis combined with sensorineural deafness.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Ichthyose-Hypotrichose-Syndrom	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Postlingual non-syndromic genetic deafness	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Prelingual non-syndromic genetic deafness (disorder)	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Alstrom syndrome	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	Is a	False	Sensorineural hearing loss	Inferred relationship	Some
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Hutchinson's triad	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Auditory synaptopathy (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Renal tubular acidosis with progressive nerve deafness	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Progressive bulbar palsy with sensorineural deafness (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural hearing loss of right ear (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural hearing loss of left ear (disorder)	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
Sensorineural deafness due to late congenital syphilis	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, severe, circulatory system disease characterized 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.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Is a	True	Sensorineural hearing loss	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
100850012	Sensorineural hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100854015	Sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100855019	Neurosensory deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100856018	Perceptive hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100857010	Perceptive deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232121016	SND - Sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232122011	Sensory-neural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232123018	Sensory-neural hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232124012	SNHL - Sensorineural hearing loss	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232125013	PD - Perceptive deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2572238011	Sensorineural hearing loss (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
214761000172113	perte d'audition neursensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
265521000172113	surdité neurosensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
307621000077116	perte d'audition neurosensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
451221000172116	perte auditive neurosensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
442051000274115	Sensorineuraler Hörverlust	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module