95827002: Congenital hearing disorder (disorder)

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

\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder

\Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder

\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder
\Disease\Congenital disease (disorder)\Congenital hearing disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

158709019 Congenital hearing disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

840062015 Congenital hearing disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1381071000052115 medfödd hörselsjukdom 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
Congenital hearing disorder	Is a	medfödd anomali i öra	false	Inferred relationship	Some
Congenital hearing disorder	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hearing disorder	Finding site	Ear structure	false	Inferred relationship	Some	1
Congenital hearing disorder	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital hearing disorder	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital hearing disorder	Finding site	Ear structure	false	Inferred relationship	Some	1
Congenital hearing disorder	Is a	Hearing disorder	true	Inferred relationship	Some
Congenital hearing disorder	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital hearing disorder	Interprets	Hearing	true	Inferred relationship	Some	2
Congenital hearing disorder	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	3
Congenital hearing disorder	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Congenital hearing disorder	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital deafness	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital deaf mutism	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Sensorineural deafness and male infertility	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital anomaly of ear with impairment of hearing	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Congenital sensorineural hearing loss (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Rubella deafness	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness craniofacial syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Lowry Yong syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Oro-facial digital syndrome type 11 (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
syndrom med epitelial, exfoliativ kolit och dövhet	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Distal arthrogryposis type 6 (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Ocular albinism with late-onset sensorineural deafness (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital cataract with deafness and hypogonadism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Split hand, split foot malformation with sensorineural hearing loss syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
syndrom med hypospadi, hypertelorism, kolobom och dövhet	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Congenital mixed conductive and sensorineural hearing loss	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Alstrom syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Robinson nail dystrophy-deafness syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Hutchinson's triad	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
ichthyosis hystrix med dövhet	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Waardenburg syndrome	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness and hypogonadism syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Bosley Salih Alorainy syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Caudal appendage deafness syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Deafness with cataract and skeletal anomaly syndrome (disorder)	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Progressive deafness with stapes fixation (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome (disorder)	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Emberger syndrome	Is a	False	Congenital hearing disorder	Inferred relationship	Some
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Beta-D-mannosidosis	Is a	True	Congenital hearing disorder	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Congenital hearing disorder	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
158709019	Congenital hearing disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
840062015	Congenital hearing disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1381071000052115	medfödd hörselsjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)