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25906001: Disorder of ear (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
43405015 Disorder of ear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756277017 Disorder of ear (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
43405015 Disorder of ear en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
43405015 Disorder of ear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
43406019 Disorder of ear, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
483070018 Disorder of ear and mastoid process en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756277017 Disorder of ear (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756277017 Disorder of ear (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3396214010 affection de l'oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396214010 affection de l'oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1246 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of ear Is a Disorder of head (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of ear Is a Disorder of auditory system true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of ear Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder of ear Is a affection de l'oreille, du nez et de la gorge true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of ear Is a Ear finding (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of ear Is a Disorder of sensory organ (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital malformation of ear Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Misshapen ear Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Ear lesion Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Viral ear infection Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Degenerative disorder of ear Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of left ear (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of right ear (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram-like syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Renal caliceal diverticuli and deafness syndrome (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Oculootodental syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Lowe Kohn Cohen syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Postlingual non-syndromic genetic deafness Is a False Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of fetal ear Is a True Disorder of ear Inferred relationship Existential restriction modifier (core metadata concept)

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