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232329002: X-linked sensorineural hearing loss (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
348079015 X-linked sensorineural hearing loss en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2570129014 X-linked sensorineural hearing loss (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7244681000241113 perte auditive neurosensorielle liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked sensorineural hearing loss Is a Sensorineural hearing loss true Inferred relationship Some
X-linked sensorineural hearing loss Interprets Hearing false Inferred relationship Some
X-linked sensorineural hearing loss Finding site Structure of nervous system (body structure) false Inferred relationship Some
X-linked sensorineural hearing loss Finding site Inner ear structure false Inferred relationship Some 1
X-linked sensorineural hearing loss Interprets Ability to hear false Inferred relationship Some
X-linked sensorineural hearing loss Interprets entité observable fonctionnelle false Inferred relationship Some
X-linked sensorineural hearing loss Is a Disorder of inner ear false Inferred relationship Some
X-linked sensorineural hearing loss Interprets Hearing false Inferred relationship Some 2
X-linked sensorineural hearing loss Is a X-linked hereditary disease true Inferred relationship Some
X-linked sensorineural hearing loss Is a Auditory system hereditary disorder true Inferred relationship Some
X-linked sensorineural hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
X-linked sensorineural hearing loss Interprets Hearing true Inferred relationship Some 1
X-linked sensorineural hearing loss Has interpretation Impaired true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Is a True X-linked sensorineural hearing loss Inferred relationship Some
Alport syndrome X-linked (disorder) Is a True X-linked sensorineural hearing loss Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a True X-linked sensorineural hearing loss Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. Is a True X-linked sensorineural hearing loss Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Is a True X-linked sensorineural hearing loss Inferred relationship Some
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Is a False X-linked sensorineural hearing loss Inferred relationship Some

Reference Sets

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US English

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