DiseaseID 26672

先天性皮肤发育不全,非综合征型

Aplasia Cutis Congenita, Nonsyndromic

NCI2016_02D:Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.|HPO2016_07_04:A d

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Disease: 1Formula: 4Herb: 1Target: 18Links: 29
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Record Fields

Scalar fields from the final disease record.

Disease Id
26672
Core Entity Id
119240
Source Entity Count
1
Preferred Name
Aplasia Cutis Congenita, Nonsyndromic
Name Cn
先天性皮肤发育不全,非综合征型
Name Pinyin
Xian Tian Xing Pi Fu Fa Yu Bu Quan , Fei Zong He Zheng Xing
Name En
Aplasia Cutis Congenita, Nonsyndromic
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition
NCI2016_02D:Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.|HPO2016_07_04: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. [HPO:probinson]
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Aplasia Cutis Congenita, Nonsyndromic
Role
preferred

Cross References

Trusted external identifiers retained for this final record.

Umls
C2931779
Sym Map
SMDE04592
Etcm Disease
Aplasia Cutis Congenita, Nonsyndromic
Itcmdb Generated
ITX-DISEASE-88057BE8B531

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Aplasia Cutis Congenita, Nonsyndromic Details page
Basic Information
Disease Name
Aplasia Cutis Congenita, Nonsyndromic
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.|HPO2016_07_04: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. [HPO:probinson]