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362991006: Auditory system hereditary disorder (disorder)

Status: current, 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
482126018 Auditory system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754765014 Auditory system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482126018 Auditory system hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482126018 Auditory system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754765014 Auditory system hereditary disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754765014 Auditory system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5228841000241111 anomalies héréditaires du système auditif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5228841000241111 anomalies héréditaires du système auditif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

205 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Auditory system hereditary disorder Is a Disorder of auditory system true Inferred relationship Existential restriction modifier (core metadata concept)
Auditory system hereditary disorder Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Auditory system hereditary disorder Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa-deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculoauricular syndrome Schorderet type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Postlingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Branchiootic syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Auditory system hereditary disorder 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 True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sinoatrial node dysfunction and deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. Is a True Auditory system hereditary disorder 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 Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis and deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pendred's syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited cochlear degeneration Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hystrix ichthyosis with deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple epiphyseal dysplasia Beighton type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Johnson neuroectodermal syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hearing loss Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubular acidosis with progressive nerve deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spinocerebellar ataxia type 3 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keratitis ichthyosis and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial deafness hand syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Emberger syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brown-Vialetto-Van Laere syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Myhre syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bartter syndrome type 4 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Beta-D-mannosidosis Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mutilating keratoderma Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked sensorineural hearing loss Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otodental syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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). Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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