Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Aplasia cutis congenita

Synonyms
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.

ID

http://www.orpha.net/ORDO/Orphanet_1114

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant

hasDbXref

UMLS:C0282160

OMIM:600360

ICD-10:Q84.8

OMIM:107600

MedDRA:10002963

ICD-11:LC60

label

Aplasia cutis congenita

notation

ORPHA:1114

part_of

http://www.orpha.net/ORDO/Orphanet_183481

http://www.orpha.net/ORDO/Orphanet_183542

http://www.orpha.net/ORDO/Orphanet_79380

http://www.orpha.net/ORDO/Orphanet_98038

prefixIRI

ORDO:Orphanet_1114

prefLabel

Aplasia cutis congenita

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

treeView

http://www.orpha.net/ORDO/Orphanet_183481

http://www.orpha.net/ORDO/Orphanet_183542

http://www.orpha.net/ORDO/Orphanet_79380

http://www.orpha.net/ORDO/Orphanet_98038

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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