FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

232333009: Hearing loss associated with syndrome (disorder)

Status: current, Not 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
348083015 Hearing loss associated with syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
348084014 Syndromal deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620384018 Hearing loss associated with syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
348083015 Hearing loss associated with syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
348083015 Hearing loss associated with syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
348084014 Syndromal deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
348084014 Syndromal deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620384018 Hearing loss associated with syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
620384018 Hearing loss associated with syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430851001000112 Schwerhörigkeit, syndromale, genetisch bedingte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252071000241114 perte d'audition associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252081000241111 surdité syndromique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252091000241113 perte auditive associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252071000241114 perte d'audition associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252081000241111 surdité syndromique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252091000241113 perte auditive associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430851001000112 Schwerhörigkeit, syndromale, genetisch bedingte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

111 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hearing loss associated with syndrome Is a Disorder of ear false Inferred relationship Existential restriction modifier (core metadata concept)
Hearing loss associated with syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hearing loss associated with syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hearing loss associated with syndrome Is a Hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Hearing loss associated with syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
décalage temporaire du seuil auditif provoqué par le bruit Is a False Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Noise-induced permanent threshold shift Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rubella deafness Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Epithelio-exfoliative colitis and deafness syndrome Is a False Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Stapes ankylosis with broad thumb and toe syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Bosley Salih Alorainy syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a False Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Gingival fibromatosis with progressive deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ramos Arroyo syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a True Hearing loss associated with syndrome 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 Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Coxoauricular syndrome (disorder) Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, vitiligo, achalasia syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Branchiootic syndrome Is a True Hearing loss associated with syndrome 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 Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Lowe Kohn Cohen syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Otopalatodigital syndrome Is a False Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oculootodental syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Renal caliceal diverticuli and deafness syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a True Hearing loss associated with syndrome 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 True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a True Hearing loss associated with syndrome 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 Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Hearing loss associated with syndrome Inferred relationship Existential restriction modifier (core metadata concept)

Page 1 of 2 End

This concept is not in any reference sets

Back to Start