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95827002: Congenital hearing disorder (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
158709019 Congenital hearing disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
912391000195117 disturbo uditivo congenito it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
392491000274119 Angeborene Hörstörung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4734391000241115 trouble auditif congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4734391000241115 trouble auditif congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912391000195117 disturbo uditivo congenito it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
392491000274119 Angeborene Hörstörung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

118 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hearing disorder Is a Congenital anomaly of ear false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hearing disorder Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hearing disorder Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hearing disorder Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hearing disorder Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hearing disorder Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hearing disorder Is a Hearing disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hearing disorder Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hearing disorder Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hearing disorder Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hearing disorder Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hearing 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
Congenital deafness Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deaf mutism Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ear with impairment of hearing Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rubella deafness Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epithelio-exfoliative colitis and deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stapes ankylosis with broad thumb and toe syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cardiospondylocarpofacial syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism with late-onset sensorineural deafness (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyose-Hypotrichose-Syndrom Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with deafness syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital mixed conductive and sensorineural hearing loss Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Is a False Congenital hearing 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 False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Robinson nail dystrophy-deafness syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hutchinson's triad Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hystrix ichthyosis with deafness Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a True Congenital hearing 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 True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bosley Salih Alorainy syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ramos Arroyo syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lowe Kohn Cohen syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keratitis ichthyosis and deafness syndrome Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Emberger syndrome Is a False Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Beta-D-mannosidosis Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Congenital hearing disorder Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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