362991006: Auditory system hereditary disorder (disorder)

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

\fynd som rör öra och hörsel\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:

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
2111771000052110 ärftlig sjukdom i hörselsystemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
Gouty tophus of pinna	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 2	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Jervell and Lange-Nielsen syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Jervell and Lange-Nielson syndrome	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Sensorineural deafness and male infertility	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Auriculo-condylar syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness and oligodontia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Progressive deafness with stapes fixation (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Spastic paraparesis co-occurrent with deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Richards-Rundle syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness craniofacial syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease type IE (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Lowry Yong syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness with cataract and skeletal anomaly syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Tungland Bellman syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Distal arthrogryposis type 6 (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Bosley Salih Alorainy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Branchiogenic deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Scalp, ear, nipple syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Deafness and myopia syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Hypertelorism with microtia and facial clefting syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Isotretinoin embryopathy-like syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Gingival fibromatosis with progressive deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Thickened earlobe with conductive deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Split hand, split foot malformation with sensorineural hearing loss syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
syndrom med hypospadi, hypertelorism, kolobom och dövhet	Is a	False	Auditory system hereditary disorder	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Coxoauricular syndrome (disorder)	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	True	Auditory system hereditary disorder	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	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
2111771000052110	ärftlig sjukdom i hörselsystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)