362991006: hereditaire aandoening van auditief systeem (aandoening)

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

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder

Status: current, 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
Auditory system hereditary disorder	Is a	Disorder of auditory system	true	Inferred relationship	Some
Auditory system hereditary disorder	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Auditory system hereditary disorder	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa-deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Keipert syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Postlingual non-syndromic genetic deafness	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Prelingual non-syndromic genetic deafness (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Waardenburg syndrome	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Alstrom syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Otopalatodigital syndrome	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Alport syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Sinoatrial node dysfunction and deafness	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
oculocutaan albinisme met congenitaal perceptief gehoorverlies	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness with onychodystrophy syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Gemignani syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Pendred's syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Arts syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Inherited cochlear degeneration	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
ichthyosis hystrix met doofheid	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Johnson neuroectodermal syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hereditary hearing loss	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Renal tubular acidosis with progressive nerve deafness	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3 (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Albinism-deafness syndrome of Tietz (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Wolfram syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Emberger syndrome	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Progressive bulbar palsy with sensorineural deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Myhre syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Bartter syndrome type 4	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Beta-D-mannosidosis	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Mutilating keratoderma	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Split-foot malformation, mesoaxial polydactyly syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
X-linked sensorineural hearing loss	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 25 (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 29 (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Auditory neuropathy, optic atrophy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
PCNA-related progressive neurodegenerative photosensitivity syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Otodental syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some

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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
6441821000146112	hereditaire aandoening van auditief systeem (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6441831000146114	hereditaire aandoening van auditief systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6441841000146118	erfelijke ziekte van akoestisch systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)