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60700002: Sensorineural hearing loss (disorder)


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
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
100850012 Sensorineural hearing loss en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
799680018 Sensorineural hearing loss (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1232121016 SND - Sensorineural deafness en Synonym (core metadata concept) Active Only initial character 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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (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
442051000274115 Sensorineuraler Hörverlust de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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


183 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sensorineural hearing loss Is a Hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Finding site Inner ear structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Interprets Ability to hear (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Is a Disorder of inner ear (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Sensorineural hearing loss Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Dominant sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
X-linked sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Recessive sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Perinatal sensorineural hearing loss Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal acquired sensorineural hearing loss Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
surdité pour fréquences basses Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Presbycusis Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss of combined sites Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Central hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Mid frequency deafness Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Neural hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Mixed conductive AND sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensory hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss of bilateral ears Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Unilateral sensorineural hearing loss with unrestricted hearing on the contralateral side Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Combined perceptive hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
surdité aux hautes fréquences Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Ototoxicity - deafness Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Unspecified perceptive hearing loss Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Perceptive hearing loss NOS Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Postoperative profound sensorineural hearing loss Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune sensorineural hearing loss (disorder) Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Asymmetrical sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Acquired sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Profound sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Rubella deafness Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Has definitional manifestation False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sudden sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Hearing loss and salivary gland insensitivity to aldosterone syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Epithelio-exfoliative colitis and deafness syndrome Is a False Sensorineural hearing loss 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. Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism with late-onset sensorineural deafness (disorder) Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Distal renal tubular acidosis co-occurrent with sensorineural deafness Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyose-Hypotrichose-Syndrom Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Gingival fibromatosis with progressive deafness syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with deafness syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss, early greying, essential tremor syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Postlingual non-syndromic genetic deafness Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a False Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Hutchinson's triad Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Auditory synaptopathy Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubular acidosis with progressive nerve deafness Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 3 Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type IE (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss of right ear (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural hearing loss of left ear (disorder) Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural deafness due to late congenital syphilis Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK syndrome Is a True Sensorineural hearing loss Inferred relationship Existential restriction modifier (core metadata concept)

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