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282038006: Congenital abnormality of external ear (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
420219010 Congenital abnormality of external ear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
675646015 Congenital abnormality of external ear (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
420219010 Congenital abnormality of external ear en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
420219010 Congenital abnormality of external ear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
675646015 Congenital abnormality of external ear (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
675646015 Congenital abnormality of external ear (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
355621000195116 anomalia congenita dell'orecchio esterno it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1054631000195119 Angeborene Anomalie des Aussenohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295531001000114 Angeborene Anomalie des äusseren Ohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6978391000241111 anomalie congénitale de l'oreille externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6978391000241111 anomalie congénitale de l'oreille externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355621000195116 anomalia congenita dell'orecchio esterno it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
21181001000119 Angeborene Anomalie des äußeren Ohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1054631000195119 Angeborene Anomalie des Aussenohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1295531001000114 Angeborene Anomalie des äusseren Ohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1972061001000114 Angeborene Anomalie des Außenohrs de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


80 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital abnormality of external ear Is a Congenital anomaly of ear false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of external ear Is a Disorder of external ear true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of external ear Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of external ear Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Is a Lesion of external ear false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of external ear Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Finding site External ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of external ear Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of external ear Finding site External ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of external ear Is a Congenital malformation of ear true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of external ear Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of external ear Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Preauricular sinus Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular fistula Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of pinna Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Misplaced ear Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of external auditory canal Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular cyst Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular dimple Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of ear lobe Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of external auditory canal (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Accessory tragus of ear Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Microtia Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Polyotia Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Double auditory canal Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of external ear Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Macrotia Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of pinna Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Branchial cleft, cyst or fistula; preauricular sinus Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Fistula of congenital auricle Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
fistule cervico-auriculaire Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular sinus, pit or fistula Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other mis-shapen ear Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fistula of auricle Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cystic ear Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of auricle with atresia of auditory canal Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stricture of external auditory canal (disorder) Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cervicoaural fistula Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Ear auricle and external auditory canal absent Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Gouty tophus of pinna (disorder) Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of pinna Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary external ear Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Accessory tragus Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of external auditory canal Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary ear Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Polyotia Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Cryptotia (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of pinna Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of right external ear (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Cryptomicrotia brachydactyly syndrome Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of left external ear (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of auditory canal Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of auditory canal (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Oculoauricular syndrome Schorderet type (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral congenital malformation of external ears Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fistula of pinna of ear Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of pinna of ear Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital split ear lobe (disorder) Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Conductive hearing loss, malformation of external ear syndrome (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of auricle with stenosis of auditory canal Is a False Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lobe of ear (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pigmented melanocytic nevus of skin of right ear (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pigmented melanocytic naevus of skin of left ear Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of helix (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cupped ears syndrome (disorder) Is a True Congenital abnormality of external ear Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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