PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Aplasia Cutis Congenita

Synonyms
Definitions

A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.

ID

http://www.phoc.org.cn/pmo/class/PMO_00009173

Database_Cross_Reference

OMIM:MTHU040347

MTH:NOCODE

CHV:0000027501

SNM:M-21000

SNOMEDCT_US:35484002

OMIM:MTHU019222

SNOMEDCT_US:254237003

NCI:C98822

RCD:X78Dv

RCD:X78Du

SNMI:D4-40120

HPO:HP:0001057

MSH:D004476

OMIM:107600

ICD10CM:Q84.8

MDR:10002963

OMIM:MTHU020179

NCI_NICHD:C98822

OMIM:MTHU043907

Definition

A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.

label

Aplasia Cutis Congenita

MCID

MC00098827

PMOID

PMO:00009173

prefixIRI

pmo:PMO_00009173

prefLabel

Aplasia Cutis Congenita

Synonym

Aplasia cutis congenita

Aplasia of skin

cuti aplasia

Aplasia cutis congenita (disorder)

ACC

Aplasia cutis

Congenital absence of skin

APLASIA CUTIS CONGENITA, NONSYNDROMIC

aplasia congenita cutis

Cutis aplasia

congenita aplasia cuti

Epitheliogenesis imperfecta

Cutis aplasia of scalp

Aplasia of skin (disorder)

Aplasia cutis of scalp

ACC - Aplasia cutis congenita

Tree Number

T3.14.1.1.6.19.7

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00009172

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