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95828007: Congenital deafness (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
158711011 Congenital deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
840063013 Congenital deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1822571000005119 Kongenit døvhed da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deafness Is a Congenital anomaly of inner ear false Inferred relationship Some
Congenital deafness Is a Congenital hearing disorder true Inferred relationship Some
Congenital deafness Occurrence Congenital false Inferred relationship Some
Congenital deafness Finding site Inner ear structure false Inferred relationship Some 1
Congenital deafness Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital deafness Associated morphology kongenit anomali false Inferred relationship Some 1
Congenital deafness Finding site Inner ear structure false Inferred relationship Some 1
Congenital deafness Interprets Hearing false Inferred relationship Some
Congenital deafness Occurrence Congenital false Inferred relationship Some 2
Congenital deafness Associated morphology dysgenese false Inferred relationship Some 2
Congenital deafness Finding site Inner ear structure false Inferred relationship Some 2
Congenital deafness Occurrence Congenital true Inferred relationship Some 1
Congenital deafness Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Congenital deafness Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Congenital deafness Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Congenital deafness Is a Complete deafness true Inferred relationship Some
Congenital deafness Interprets Hearing true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital prelingual deafness Is a True Congenital deafness 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 deafness 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 deafness Inferred relationship Some
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Is a True Congenital deafness 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 deafness Inferred relationship Some
A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. Is a True Congenital deafness Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Congenital deafness Inferred relationship Some

Reference Sets

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