282038006: Congenital abnormality of external ear (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear

\Ear, nose and throat finding\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear
\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear

\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Ear and auditory finding\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear

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

Descriptions:

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	Some
Congenital abnormality of external ear	Is a	Disorder of external ear	true	Inferred relationship	Some
Congenital abnormality of external ear	Finding site	External ear structure	true	Inferred relationship	Some	1
Congenital abnormality of external ear	Occurrence	Congenital	false	Inferred relationship	Some
Congenital abnormality of external ear	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital abnormality of external ear	Is a	Lesion of external ear	false	Inferred relationship	Some
Congenital abnormality of external ear	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital abnormality of external ear	Finding site	External ear structure	false	Inferred relationship	Some	1
Congenital abnormality of external ear	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital abnormality of external ear	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital abnormality of external ear	Finding site	External ear structure	false	Inferred relationship	Some	2
Congenital abnormality of external ear	Is a	Congenital malformation of ear (disorder)	true	Inferred relationship	Some
Congenital abnormality of external ear	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital abnormality of external ear	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital abnormality of external ear	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Preauricular sinus	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Preauricular fistula	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital deformity of pinna	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Misplaced ear	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital stenosis of external auditory canal	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Preauricular cyst (disorder)	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Preauricular dimple	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital absence of ear lobe	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital absence of external auditory canal	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Accessory tragus of ear	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Microtia	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Polyotia	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Double auditory canal	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital absence of external ear	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Macrotia	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital malposition of pinna	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Branchial cleft, cyst or fistula; preauricular sinus	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Fistula of congenital auricle	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
fistule cervico-auriculaire	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Preauricular sinus, pit or fistula	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
[X]Other mis-shapen ear	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital fistula of auricle	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital cystic ear	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital absence of auricle with atresia of auditory canal	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital stricture of external auditory canal	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital cervicoaural fistula	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Ear auricle and external auditory canal absent	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Gouty tophus of pinna (disorder)	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital abnormal shape of pinna	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Supernumerary external ear	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Accessory tragus	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital atresia of external auditory canal	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Supernumerary ear	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Polyotia	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Cryptotia (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital deformity of pinna	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital atresia of right external ear (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
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	Some
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	Some
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital atresia of left external ear (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Aplasia of auditory canal	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Hypoplasia of auditory canal (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
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	Some
Congenital malformation of bilateral external ears (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital fistula of pinna of ear	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital cyst of pinna of ear	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital split ear lobe (disorder)	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital absence of auricle with stenosis of auditory canal	Is a	False	Congenital abnormality of external ear	Inferred relationship	Some
Congenital anomaly of lobe of ear	Is a	True	Congenital abnormality of external ear	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 abnormality of external ear	Inferred relationship	Some
Congenital pigmented melanocytic nevus of skin of right ear (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital pigmented melanocytic naevus of skin of left ear	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital malformation of helix (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some
Congenital hypoplasia of auricular cartilage (disorder)	Is a	True	Congenital abnormality of external ear	Inferred relationship	Some

This concept is not in any reference sets

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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
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
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
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