DiseaseID 3973
面部偏侧萎缩
disease
SNOMEDCT_US_2016_09_01:A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the un
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Disease: 1Symptom: 8Target: 11Links: 19
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3973
- Core Entity Id
- 60250
- Source Entity Count
- 1
- Preferred Name
- Facial Hemiatrophy
- Name Cn
- 面部偏侧萎缩
- Name Pinyin
- Mian Bu Pian Ce Wei Suo
- Name En
- Facial Hemiatrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Stomatognathic Diseases; Nervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of head or neck
- Mesh Class Name
- Nervous System Diseases; Stomatognathic Diseases
- Hpo Class Name
- Abnormality of head or neck
- Do Class Name
- disease of anatomical entity
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported.|NCI2016_NICHD_1602D:A rare disorder characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures.|NCI2016_02D:Progressive atrophy of the tissues that comprise half of the face.|NCI2016_02D:A rare disorder of unknown etiology, which is characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures. Neurological, ocular, and oral symptoms are also often seen, including migraines, trigeminal neuralgia, enophthalmos, and dental and gingival abnormalities.|MSH2017_2016_08_12:A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.|HPO2016_07_04:Unilateral atrophy of facial tissues, including muscles, bones and skin. [DDD:awilkie]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Facial Hemiatrophy
Role
preferred
Name
Atrophy of Half of Face
Role
alias
Name
Atrophy of One Side of The Face
Role
alias
Name
Decrease In Size of Half of Face
Role
alias
Name
Decrease In Size of One Side of The Face
Role
alias
Name
Hemifacial Atrophy
Role
alias
Name
Hemifacial Atrophy, Progressive
Role
alias
Name
Parry-Romberg Syndrome
Role
alias
Name
Shrinking of Half of Face
Role
alias
Name
Shrinking of One Side of The Face
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0011331
Herb
HBDIS001024
Me Sh
D005150
Omim
141300
Umls
C0015458
Sym Map
SMDE08606
Do Class
DOID:7
Dis Ge Net
C0015458
Umls Sty
T047
Hpo Class
HP:0000152
Me Sh Class
C07C10
Tcmbank Disease
13223
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of head or neck
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of head or neck
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A rare acquired disorder with characteristics of unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Usually presents during the first 20 years of life and may start with alopecia, hair hypopigmentation, and atrophy. May extend to the upper lip and or one side of the tongue and the masticatory muscles, resulting in deviation of the nose and or mouth toward the affected side. Rarely both sides of the face and the skin on the arms/trunk/leg or the entire body may be involved. Autoimmunity may be a cause along with facial or head trauma, meningoencephalitis, abnormal development or hyperactivity of the sympathetic nervous system, neuro-vasculitis, angiogenesis anomalies, and slow viral infections. Sporadic but rare familial cases have been reported.|NCI2016_NICHD_1602D:A rare disorder characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures.|NCI2016_02D:Progressive atrophy of the tissues that comprise half of the face.|NCI2016_02D:A rare disorder of unknown etiology, which is characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures. Neurological, ocular, and oral symptoms are also often seen, including migraines, trigeminal neuralgia, enophthalmos, and dental and gingival abnormalities.|MSH2017_2016_08_12:A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.|HPO2016_07_04:Unilateral atrophy of facial tissues, including muscles, bones and skin. [DDD:awilkie]
Me Sh Disease Class
Stomatognathic Diseases; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Nervous System Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Disease or Syndrome