DiseaseID 5349
尖头畸形
disease
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmen
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Disease: 1Formula: 22Herb: 12Symptom: 12Target: 24Links: 70
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5349
- Core Entity Id
- 61834
- Source Entity Count
- 1
- Preferred Name
- Acrocephaly
- Name Cn
- 尖头畸形
- Name Pinyin
- Jian Tou Ji Xing
- Name En
- Acrocephaly
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesImmune System DiseasesStomatognathic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of the cardiovascular system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesImmune System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
- Hpo Class Name
- Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of the cardiovascular system
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmen
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acrocephaly
Role
preferred
Name
Asymmetric Crying Face Association
Role
preferred
Name
Baller-Gerold Syndrome
Role
preferred
Name
Craniosynostosis 1
Role
preferred
Name
Craniosynostosis 6
Role
preferred
Name
Double Outlet Right Ventricle
Role
preferred
Name
Isolated Oxycephaly
Role
preferred
Name
Truncus Arteriosus, Persistent
Role
preferred
Name
22Q11.2 Deletion Syndrome
Role
preferred
Name
Abnormality of The Skull
Role
preferred
Name
Brachycephaly
Role
preferred
Name
CONOTRUNCAL ANOMALY FACE SYNDROME
Role
preferred
Name
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Role
preferred
Name
CRANIOSYNOSTOSIS 3
Role
preferred
Name
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
Role
preferred
Name
CRANIOSYNOSTOSIS, TYPE 2
Role
preferred
Name
Cloverleaf Skull
Role
preferred
Name
Conotruncal Heart Malformations
Role
preferred
Name
Craniosynostosis
Role
preferred
Name
Craniosynostosis 4
Role
preferred
Name
Craniosynostosis, Adelaide Type
Role
preferred
Name
Craniosynostosis, Type 1
Role
preferred
Name
DiGeorge Syndrome
Role
preferred
Name
Double Outlet Right Ventricle, Noncommitted VSD
Role
preferred
Name
Double Outlet Right Ventricle, Subaortic VSD
Role
preferred
Name
Double Outlet Right Ventricle, Subpulmonary VSD
Role
preferred
Name
Early Fontanel Closure
Role
preferred
Name
Interfrontal Craniofaciosynostosis
Role
preferred
Name
Interrupted Aortic Arch
Role
preferred
Name
Isolated Brachycephaly
Role
preferred
Name
Isolated Cloverleaf Skull Syndrome
Role
preferred
Name
Isolated Scaphocephaly
Role
preferred
Name
Isolated Trigonocephaly
Role
preferred
Name
Metopic Synostosis
Role
preferred
Name
Scaphycephaly
Role
preferred
Name
Shprintzen Syndrome
Role
preferred
Name
Shprintzen-Goldberg Syndrome
Role
preferred
Name
Synostotic Anterior Plagiocephaly
Role
preferred
Name
Synostotic Posterior Plagiocephaly
Role
preferred
Name
Taussig-Bing Anomaly
Role
preferred
Name
Thymic Alymphoplasia
Role
preferred
Name
Trigonocephaly
Role
preferred
Name
Abnormality of The Skull Bones
Role
alias
Name
Asymmetric Crying Face
Role
alias
Name
Atretic Transverse Aortic Arch
Role
alias
Name
BGS
Role
alias
Name
CRANIOSTENOSIS
Role
alias
Name
CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
Role
alias
Name
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
Role
alias
Name
CRS
Role
alias
Name
CRS1
Role
alias
Name
CRS6
Role
alias
Name
Cayler Cardiofacial Syndrome
Role
alias
Name
Cloverleaf Skull Shape
Role
alias
Name
Common Arterial Trunk
Role
alias
Name
Conotruncal Cardiac Defects
Role
alias
Name
Cranial Suture Synostosis
Role
alias
Name
Craniosynostoses
Role
alias
Name
Craniosynostosis 2
Role
alias
Name
Craniosynostosis Radial Aplasia Syndrome
Role
alias
Name
Craniosynostosis, Metopic
Role
alias
Name
Craniosyostosis
Role
alias
Name
Deformity of The Skull
Role
alias
Name
Depressor Anguli Oris Muscle, Hypoplasia Of
Role
alias
Name
Di George'S Syndrome
Role
alias
Name
Dorv
Role
alias
Name
Dorv With Subpulmonary Vsd Without Pulmonary Stenosis
Role
alias
Name
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Without Pulmonary Stenosis
Role
alias
Name
Double Outlet Right Ventricle, Noncommitted Ventricular Septal Defect
Role
alias
Name
Early Closure of The Cranial Sutures
Role
alias
Name
Early Closure of The Fontanelles
Role
alias
Name
Early Fusion of Cranial Sutures
Role
alias
Name
Hypsicephaly
Role
alias
Name
Hypsocephaly
Role
alias
Name
Kleeblattschaedel
Role
alias
Name
Lambdoid Suture Craniosynostosis
Role
alias
Name
Lambdoid Suture Synostosis
Role
alias
Name
Lambdoidal Craniosynostosis
Role
alias
Name
Marfanoid Craniosynostosis Syndrome
Role
alias
Name
Metopic Craniosynostosis
Role
alias
Name
Metopic Suture Craniosynostosis
Role
alias
Name
Obliterated Fontanelles
Role
alias
Name
Partial Unilateral Facial Paresis
Role
alias
Name
Persistent Truncus Arteriosus
Role
alias
Name
Premature Closure of Cranial Sutures
Role
alias
Name
Premature Closure of Fontanelles
Role
alias
Name
Premature Closure of The Cranial Sutures
Role
alias
Name
Premature Fontanel Closure
Role
alias
Name
Premature Suture Closure
Role
alias
Name
Pyrgocephaly
Role
alias
Name
Scaphocephaly
Role
alias
Name
Short And Broad Skull
Role
alias
Name
Shprintzen Golberg Craniosynostosis
Role
alias
Name
Shprintzen-Goldberg Craniosynostosis Syndrome
Role
alias
Name
Syndrome, Shprintzen
Role
alias
Name
Synostosis, Metopic
Role
alias
Name
Tall Shaped Cranium
Role
alias
Name
Tall Shaped Head
Role
alias
Name
Tall Shaped Skull
Role
alias
Name
Tower Cranium Shape
Role
alias
Name
Tower Skull Shape
Role
alias
Name
Triangular Cranium Shape
Role
alias
Name
Triangular Skull Shape
Role
alias
Name
Trigonocephaly 1
Role
alias
Name
Trigonocephaly, Nonsyndromic
Role
alias
Name
Trilobar Skull Shape
Role
alias
Name
Truncus Arteriosus Communis
Role
alias
Name
Turricephaly
Role
alias
Name
Velocardiofacial Syndrome
Role
alias
Name
Wedge Shaped Cranium
Role
alias
Name
Wedge Shaped Skull
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000243HP:0000248HP:0000262HP:0000263HP:0000929HP:0001363HP:0001719HP:0002676HP:0004443HP:0005458HP:0011330HP:0011333HP:0011611HP:0011654HP:0011658HP:0030799
Herb
HBDIS000681HBDIS000795HBDIS000820HBDIS002258HBDIS003005HBDIS003719HBDIS004511HBDIS004637HBDIS005023HBDIS005807HBDIS005844HBDIS005845HBDIS006906HBDIS009340HBDIS009383HBDIS010031HBDIS011652HBDIS013515HBDIS015170HBDIS015188HBDIS017438HBDIS017519HBDIS017743HBDIS017802HBDIS018585HBDIS018586HBDIS018587HBDIS018588HBDIS020235HBDIS022137HBDIS022378HBDIS025689HBDIS027337HBDIS029458
Me Sh
D003398D004062D004310D014339
Omim
123100148800182212190440192430217095218600600775604757615314615529616602
Umls
C0010278C0012236C0013069C0030044C0041207C0152419C0221356C0265308C0265534C0265535C0431406C0795907C1414025C1857586C1861129C2936346C3266101C3715051C3806917C4225269
Icd10
D82.1Q20.0Q20.1Q75.0
Sym Map
SMDE00556SMDE00640SMDE01292SMDE02435SMDE02549SMDE02683SMDE02969SMDE03104SMDE03236SMDE03254SMDE03732SMDE04207SMDE05172SMDE06103SMDE07520SMDE08016SMDE14022
Do Class
DOID:630DOID:7
Dis Ge Net
C0010278C0012236C0013069C0030044C0041207C0152419C0220704C0221356C0235942C0265308C0265534C0265535C0277827C0431406C0432122C0543687C0795907C1321551C1833340C1833578C1857586C1858160C1860050C1860819C1956410C1956411C1956412C1956413C2931150C3715051C3806917C3809819C4225269C4551902
Orphanet
122523433366350933509956763440
Umls Sty
T019T033T047
Hpo Class
HP:0000152HP:0000924HP:0001626
Me Sh Class
C05C07C10C13C14C15C16C17C19C20C23
Etcm Disease
Baller-Gerold SyndromeConotruncal Heart MalformationsCraniosynostosis 1Craniosynostosis 3Craniosynostosis 4Craniosynostosis 6Digeorge SyndromeIsolated BrachycephalyIsolated OxycephalyIsolated ScaphocephalyIsolated Trigonocephaly
Tcmbank Disease
108081147712491352714140144141569415969161031616618145212652244922515228512289923107236052401324113242452599827484286028747288432915730213057134703884720601184679609
Itcmdb Generated
ITX-DISEASE-108CBCDD22E7ITX-DISEASE-1A8119FE753EITX-DISEASE-4F84F2249DD0ITX-DISEASE-51D562A3894EITX-DISEASE-654E682A5E5EITX-DISEASE-68083CB0401CITX-DISEASE-7944C2EC151FITX-DISEASE-98ECB1B0FDB1ITX-DISEASE-AB9297F93501ITX-DISEASE-B809BD60A02EITX-DISEASE-C3F54C04EC1BITX-DISEASE-C6873001BF5FITX-DISEASE-CB77CB0A1878ITX-DISEASE-D1630EBCCC87ITX-DISEASE-DBC047CDB7ACITX-DISEASE-F262104DF301ITX-DISEASE-FE767B7E1769
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Baller-Gerold Syndrome Details pageDisease Conotruncal Heart Malformations Details pageDisease Craniosynostosis 1 Details pageDisease Craniosynostosis 3 Details pageDisease Craniosynostosis 4 Details pageDisease Craniosynostosis 6 Details pageDisease Digeorge Syndrome Details pageDisease Isolated Brachycephaly Details pageDisease Isolated Oxycephaly Details pageDisease Isolated Scaphocephaly Details pageDisease Isolated Trigonocephaly Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of the cardiovascular system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of head or neckAbnormality of head or neck; Abnormality of the skeletal systemAbnormality of the cardiovascular system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding
Basic Information
Disease Name
Baller-Gerold Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Name
Conotruncal Heart Malformations
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases
Disease Name
Craniosynostosis 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Craniosynostosis 3
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Craniosynostosis 4
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Craniosynostosis 6
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Digeorge Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Gastrointestinal Diseases;Immune diseases;Nephrological diseases;Neuronal diseases
Disease Name
Isolated Brachycephaly
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Isolated Oxycephaly
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Isolated Scaphocephaly
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Isolated Trigonocephaly
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Definition
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmenBaller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontaIsolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. CIsolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.JABL99:A syndrome of dysmorphic facies and conotruncal heart defects having common genetic characteristics with DiGeorge and Shprinzen syndromes. Considered a variant of the CATCH 22 syndrome.JABL99:Unilateral facial weakness which may be associated with heart defects. The face appears symmetric at rest, the mouth being pulled downward to one side when crying owing to unilateral partial weakness involving the lip depressor muscle (depressor anguli oris). Genitourinary, respiratory, and other abnormalities may be associated. Mental retardation in some cases.|HPO2016_07_04:Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. [HPO:cwright]NCI2016_02D:A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.|MSH2017_2016_08_12:Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.|JABL99:Branchial arch defects with craniofacial abnormalities, hearing loss, short stature, and learning difficulty.|JABL99:A developmental defect of derivatives of the third and fourth pharyngeal pouches, almost always associated with agenesis or hypoplasia of the thymus and parathyroid gland, characteristic facies with downslanting palpebral fissures and ocular and nasal anomalies, hypocalcemia, cardiovascular anomalies, immunodeficiency, and other variable abnormalities. Patients who survive infancy are usually mentally retarded. DiGeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity. Conditions associated with the development of DiGeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and Zellweger syndrome. Major features of this syndrome have been designated by the Newcastle Upon Tyne Group CATCH 22 (Cardiac, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia), the number 22 indicating deletion of the long arm of chromosome 22 (22q11).|CSP2006:congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal.NCI2016_02D:A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.|MSH2017_2016_08_12:A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect.NCI2016_CDISC_1602D:Premature closure of cranial sutures with fusion of bone, resulting in small maldeveloped skull; used to describe multiple skull bone fusions. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.|MSH2017_2016_08_12:Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.|HPO2016_07_04:Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. [HPO:probinson]|CSP2006:premature closure of one or more sutures of the skull.NCI2016_CDISC_1602D:Pulmonary trunk and aorta arise from the right ventricle. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle.|MSH2017_2016_08_12:Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.|HPO2016_07_04:Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. [HPO:probinson, pmid:10798433]
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesImmune System DiseasesStomatognathic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular DiseasesImmune System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding