loading...| Preferred Name |
microtia |
|
| Synonyms |
M-A microtia-anotia microtia, congenital microtias, congenital congenital microtias anotia |
|
| Definitions |
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010920 |
|
| closeMatch | ||
| database_cross_reference |
icd11.foundation:2005415414 MESH:D065817 ICD9:744.23 Orphanet:83463 OMIM:600674 GARD:431 MESH:C537772 ICD10CM:Q17.2 SCTID:35045004 MedDRA:10027555 |
|
| definition |
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_83463 http://purl.bioontology.org/ontology/ICD10CM/Q17.2 |
|
| has_exact_synonym |
M-A microtia-anotia microtia, congenital microtias, congenital congenital microtias |
|
| has_narrow_synonym |
anotia |
|
| id |
MONDO:0010920 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
microtia |
|
| notation |
MONDO:0010920 |
|
| prefLabel |
microtia |
|
| subClassOf |