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788953003: Hereditary hearing loss (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3786242018 Hereditary hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3786243011 Hereditary hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

178 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary hearing loss Interprets Hearing true Inferred relationship Some 2
Hereditary hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Hereditary hearing loss Is a Auditory system hereditary disorder true Inferred relationship Some
Hereditary hearing loss Is a Hearing finding (finding) false Inferred relationship Some
Hereditary hearing loss Is a Hearing loss true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Coxoauricular syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Hereditary hearing loss Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Hereditary hearing loss Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Hereditary hearing loss Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Hereditary hearing loss Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness and oligodontia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Charcot-Marie-Tooth disease type IE (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Waardenburg Shah syndrome Is a True Hereditary hearing loss Inferred relationship Some
Lowry Yong syndrome Is a True Hereditary hearing loss Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Tungland Bellman syndrome Is a True Hereditary hearing loss Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Hereditary hearing loss Inferred relationship Some
Wolfram-like syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
MEGDEL syndrome Is a True Hereditary hearing loss Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Hereditary hearing loss Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Gemignani syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hereditary hearing loss Inferred relationship Some
Stickler syndrome type 3 (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hypotrichosis and deafness syndrome Is a True Hereditary hearing loss Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Hereditary hearing loss Inferred relationship Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Hereditary hearing loss Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Hereditary hearing loss Inferred relationship Some
X-linked sensorineural hearing loss Is a True Hereditary hearing loss Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Otodental syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Hereditary hearing loss Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a True Hereditary hearing loss Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Hereditary hearing loss Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Mitchell syndrome Is a True Hereditary hearing loss Inferred relationship Some
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary hearing loss Inferred relationship Some

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