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63701000146108: congenitaal gehoorverlies (aandoening)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2019. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module
4139881000146116 Congenital hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4139891000146119 Congenital hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8916221000146117 congenitaal gehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8916231000146115 aangeboren gehoorstoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8916241000146111 congenitaal gehoorverlies (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

122 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hearing loss (disorder) Finding site Structure of auditory system (body structure) false Inferred relationship Some 3
Congenital hearing loss (disorder) Is a Congenital hearing disorder true Inferred relationship Some
Congenital hearing loss (disorder) Interprets Hearing true Inferred relationship Some 2
Congenital hearing loss (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hearing loss (disorder) Is a Hearing loss true Inferred relationship Some
Congenital hearing loss (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Albinism with deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Hutchinson's triad Is a False Congenital hearing loss (disorder) Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Oro-facial digital syndrome type 11 (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Pili torti-deafness syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Lowry Yong syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Is a True Congenital hearing loss (disorder) Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital deafness Is a True Congenital hearing loss (disorder) Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Congenital hearing loss (disorder) Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Robinson nail dystrophy-deafness syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Sensorineural deafness and male infertility Is a False Congenital hearing loss (disorder) Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital deaf mutism Is a True Congenital hearing loss (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Alstrom syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Mitochondrial myopathy, lactic acidosis, deafness syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Congenital sensorineural hearing loss (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
ichthyosis hystrix met doofheid Is a False Congenital hearing loss (disorder) Inferred relationship Some
Waardenburg syndrome Is a True Congenital hearing loss (disorder) Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Oto-palato-digital syndrome, type I Is a True Congenital hearing loss (disorder) Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Lowe Kohn Cohen syndrome Is a True Congenital hearing loss (disorder) Inferred relationship Some
Abruzzo Erickson syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Congenital hearing loss (disorder) Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a False Congenital hearing loss (disorder) Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Wolfram-like syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a False Congenital hearing loss (disorder) Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some
Melnick-Fraser syndrome Is a True Congenital hearing loss (disorder) Inferred relationship Some
Beta-D-mannosidosis Is a True Congenital hearing loss (disorder) Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Congenital hearing loss (disorder) Inferred relationship Some
Keratitis ichthyosis and deafness syndrome (disorder) Is a True Congenital hearing loss (disorder) Inferred relationship Some

This concept is not in any reference sets

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