Preferred Name |
aplasia cutis congenita |
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Synonyms |
aplasia cutis congenita aplasia cutis congenita recessive aplasia cutis congenita (disease) congenital defect of skull and scalp scalp defect congenital aplasia cutis congenita nonsyndromic aplasia cutis congenita, nonsyndromic scalp defect, congenital ACC |
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Definitions |
Aplasia cutis congenita (ACC) is 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. ACC may occasionally be associated with other anomalies. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007145 |
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database_cross_reference |
ICD9:757.39 NCIT:C98822 Orphanet:1114 DOID:0080661 SCTID:35484002 icd11.foundation:350175828 OMIM:107600 GARD:5835 HP:0001057 NORD:794 |
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definition |
Aplasia cutis congenita (ACC) is 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. ACC may occasionally be associated with other anomalies. |
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exactMatch |
http://purl.obolibrary.org/obo/Orphanet_1114 http://purl.obolibrary.org/obo/NCIT_C98822 |
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has_exact_synonym |
aplasia cutis congenita aplasia cutis congenita recessive aplasia cutis congenita (disease) |
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has_related_synonym |
congenital defect of skull and scalp scalp defect congenital aplasia cutis congenita nonsyndromic aplasia cutis congenita, nonsyndromic scalp defect, congenital ACC |
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IAO_0000589 |
aplasia cutis congenita (disease) |
|
id |
MONDO:0007145 |
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
label |
aplasia cutis congenita |
|
notation |
MONDO:0007145 |
|
prefLabel |
aplasia cutis congenita |
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subClassOf |