232325008: Chronic deafness (disorder)

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

\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness

\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness
\Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness
\Disease\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness
\Disease\Chronic disease\Chronic disease of ear\Chronic deafness

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

348075014 Chronic deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2570126019 Chronic deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

307811000077113 surdité chronique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic deafness	Is a	Hearing loss	true	Inferred relationship	Some
Chronic deafness	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Chronic deafness	Finding site	Ear structure	true	Inferred relationship	Some	1
Chronic deafness	Interprets	Hearing	false	Inferred relationship	Some
Chronic deafness	Interprets	Ability to hear	false	Inferred relationship	Some
Chronic deafness	Interprets	entité observable fonctionnelle	false	Inferred relationship	Some
Chronic deafness	Is a	Disorder of ear	false	Inferred relationship	Some
Chronic deafness	Interprets	Hearing	true	Inferred relationship	Some	2
Chronic deafness	Is a	Chronic disease of ear	true	Inferred relationship	Some
Chronic deafness	Clinical course	Chronic	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Is a	True	Chronic deafness	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	Is a	True	Chronic deafness	Inferred relationship	Some
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	True	Chronic deafness	Inferred relationship	Some
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.	Is a	True	Chronic deafness	Inferred relationship	Some
Gemignani syndrome is 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	Chronic deafness	Inferred relationship	Some
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.	Is a	True	Chronic deafness	Inferred relationship	Some

This concept is not in any reference sets