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111339003: Congenital anomaly of ear with impairment of hearing (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
178572014 Congenital anomaly of ear with impairment of hearing en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
630484011 Congenital anomaly of ear with impairment of hearing (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5970701000241115 anomalie congénitale de l'oreille avec déficience auditive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5970711000241118 anomalie congénitale de l'oreille avec altération de l'audition fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

28 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of ear with impairment of hearing Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Is a Congenital anomaly of ear false Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Associated morphology Congenital impairment false Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Occurrence Congenital false Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Finding site Ear structure true Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Finding site Ear structure false Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of ear with impairment of hearing Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of ear with impairment of hearing Finding site Ear structure false Inferred relationship Some 2
Congenital anomaly of ear with impairment of hearing Is a Congenital malformation of ear (disorder) true Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Is a Congenital hearing disorder true Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Is a Hearing loss true Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Interprets Hearing true Inferred relationship Some 2
Congenital anomaly of ear with impairment of hearing Interprets entité observable fonctionnelle false Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of auricle with atresia of auditory canal Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Congenital absence of auricle with stenosis of auditory canal Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Congenital absence of external ear Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Ear pit syndrome Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Jervell and Lange-Nielson syndrome Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Congenital conductive hearing loss Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Postlingual non-syndromic genetic deafness Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) Is a False Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Congenital malformation of left ear with impairment of hearing Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Pendred's syndrome Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
Mondini defect Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Is a True Congenital anomaly of ear with impairment of hearing Inferred relationship Some

This concept is not in any reference sets

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