Preferred Name |
Aplasia cutis congenita |
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Synonyms |
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Definitions |
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. |
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ID |
http://www.orpha.net/ORDO/Orphanet_1114 |
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definition |
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies. |
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definition_citation |
Orphanet |
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expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 |
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has_age_of_onset |
Antenatal Neonatal |
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has_inheritance |
Not applicable Autosomal recessive Autosomal dominant |
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hasDbXref |
UMLS:C0282160 OMIM:600360 ICD-10:Q84.8 OMIM:107600 MedDRA:10002963 ICD-11:LC60 |
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label |
Aplasia cutis congenita |
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notation |
ORPHA:1114 |
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part_of |
http://www.orpha.net/ORDO/Orphanet_183481 http://www.orpha.net/ORDO/Orphanet_183542 |
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prefixIRI |
ORDO:Orphanet_1114 |
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prefLabel |
Aplasia cutis congenita |
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present_in |
Worldwide AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 7.69 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 |
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treeView |
http://www.orpha.net/ORDO/Orphanet_183481 http://www.orpha.net/ORDO/Orphanet_183542 |
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subClassOf |