Skip to main content
Diseases

Aplasia Cutis Congenita

aplasia cutis congenita

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.

Core Information

Disease Name
Aplasia Cutis Congenita
Standard Disease Name
aplasia cutis congenita
MeSH Tree
No data
ICD-10
Q24.9

Identifiers

DO ID
No data
MeSH ID
D006330
OMIM ID
MTHU013668|MTHU008662|140500|234750|MTHU024793|MTHU036327|MTHU033032|MTHU021246
UMLS ID
C0018798
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:An anatomical defect of a gross structure of the heart.|MSH2017_2016_08_12:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.|MEDLINEPLUS_20151021:<p>A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.</p> <p>Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include</p> <ul> <li>Rapid breathing</li> <li>Cyanosis - a bluish tint to the skin, lips, and fingernails</li> <li>Fatigue</li> <li>Poor blood circulation</li> </ul> <p>Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.</p> <p>Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.</p> <p >NIH: National Heart, Lung, and Blood Institute</p>|HPO2016_07_04:Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava). [HPO:probinson]|HPO2016_07_04:Any structural anomaly of the heart. [HPO:probinson]|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth|CHV2011_02:Imperfections or malformations of the heart, existing at birth
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
06
NR5A1
nuclear receptor subfamily 5 group A member 1
nuclear receptor subfamily 5 group A member 1
07
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
SOS Ras/Rac guanine nucleotide exchange factor 1
08
VEGFC
vascular endothelial growth factor C
vascular endothelial growth factor C