DiseaseID 6399

巨头畸形

disease

NCI2016_NICHD_1602D:An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis.|NCI2016_02D:An abnormal increase in head circumferenc

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Disease: 1Symptom: 2Target: 12Links: 14
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Record Fields

Scalar fields from the final disease record.

Disease Id
6399
Core Entity Id
63044
Source Entity Count
1
Preferred Name
Macrocephaly
Name Cn
巨头畸形
Name Pinyin
Ju Tou Ji Xing
Name En
Macrocephaly
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Do Class
Hpo Class
Abnormality of the nervous system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Hpo Class Name
Abnormality of the nervous system
Do Class Name
Disease Definition
NCI2016_NICHD_1602D:An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis.|NCI2016_02D:An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis.|MSH2017_2016_08_12:A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).|HPO2016_07_04:Enlargement of all or parts of the cerebral hemispheres. [HPO:probinson]
Version
v2
Suppressed
No

Names

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

Name
Macrocephaly
Role
preferred
Name
Macrencephaly
Role
alias
Name
Megalencephaly
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0001355
Herb
HBDIS004636
Me Sh
D058627
Umls
C0221355
Icd10
Q75.3
Sym Map
SMDE10626
Dis Ge Net
C0221355
Umls Sty
T019
Hpo Class
HP:0000707
Me Sh Class
C05C10C16
Tcmbank Disease
7590

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Congenital Abnormality
Disease Definition
NCI2016_NICHD_1602D:An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis.|NCI2016_02D:An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis.|MSH2017_2016_08_12:A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).|HPO2016_07_04:Enlargement of all or parts of the cerebral hemispheres. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital Abnormality