| 疾病名称 |
别名 |
|
| Craniosynostosis 2 |
|
Warman-Mulliken-Hayward Syndrome
|
Craniosynostosis, Type 2
|
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CRS2
|
Craniosynostosis, Boston-Type
|
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Csb
|
Craniosynostosis, Boston Type
|
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Craniosynostosis, Warman Type
|
Craniosynostosis Boston Type
|
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Craniosynostosis Boston-Type
|
Craniosynostosis Warman Type
|
|
Craniosynostosis Warman-Type
|
Warman Mulliken Hayward Syndrome
|
|
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| Parietal Foramina With Cleidocranial Dysplasia |
|
PFMCCD
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Cleidocranial Dysplasia With Parietal Foramina
|
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Parietal Foramina With Clavicular Hypoplasia
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Foramina, Parietal, With Cleidocranial Dysplasia
|
|
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| Parietal Foramina 1 |
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Cranium Bifidum Occultum
|
PFM1
|
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Pfm
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Parietal Foramina, Symmetric
|
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Foramina Parietalia Permagna
|
Fpp
|
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Catlin Marks
|
Cranium Bifidum, Hereditary
|
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Enlarged Parietal Foramina
|
|
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| Parietal Foramina |
|
Enlarged Parietal Foramina
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Hereditary Cranium Bifidum
|
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Symmetric Parietal Foramina
|
Catlin Marks
|
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Foramina Parietalia Permagna
|
Caitlin Marks
|
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Cranium Bifidum
|
Cranium Bifidum Occultum
|
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Fenestrae Parietals Symmetricae
|
Fpp
|
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Giant Parietal Foramina
|
Pfm
|
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Fenestrae Parietales Symmetricae
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Foramina, Parietal
|
|
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| Warman Mulliken Hayward Syndrome |
|
Craniosynostosis Warman Type
|
Craniosynostosis Boston Type
|
|
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| Craniosynostosis |
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Premature Closure Of Cranial Sutures
|
Craniostenosis
|
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Craniosynostosis Syndrome
|
Cso
|
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Craniosynostoses
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Congenital Ossification Of Cranial Sutures
|
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Congenital Ossification Of Sutures Of Skull
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Craniostosis
|
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Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
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Imperfect Closure Skull
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Premature Closure Cranium Sutures
|
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Deficiency Of Craniofacial Axis
|
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| Cleidocranial Dysplasia |
|
Cleidocranial Dysostosis
|
CLCD
|
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Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
|
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
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CCD
|
Marie-Sainton Disease
|
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Dysplasia Cleidocranial
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Dento-Osseous Dysplasia
|
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Marie-Sainton Syndrome
|
Dysplasia, Cleidocranial
|
|
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| Exencephaly |
|
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| Saethre-Chotzen Syndrome |
|
SCS
|
Acs3
|
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Acs Iii
|
Chotzen Syndrome
|
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Acrocephaly, Skull Asymmetry, And Mild Syndactyly
|
Acrocephalosyndactyly Type 3
|
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Acrocephalosyndactyly, Type Iii
|
Acrocephalosyndactyly Type Iii
|
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Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies
|
Auralcephalosyndactyly
|
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Acs 3
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Acrocephalo-Syndactyly, Type 3
|
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Blepharophimosis,Epicanthus Inversus, And Ptosis 3
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Aural Cephalosyndactyly
|
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Kurczynski-Casperson Syndrome
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Acrocephalosyndactyly Iii
|
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Dysostosis Craniofacialis With Hypertelorism
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Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
|
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Sakati Syndrome
|
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| Synostosis |
|
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| Crouzon Syndrome |
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Crouzon Craniofacial Dysostosis
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Craniofacial Dysostosis
|
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Cfd1
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Craniofacial Dysostosis Type 1
|
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Crouzon Disease
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Crouzon'S Disease
|
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Craniofacial Dysostosis, Type I
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Craniofacial Dysarthrosis
|
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Craniofacial Dysostosis Syndrome
|
CS
|
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Craniofacial Dysostosis Type I
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Vogt Cephalosyndactyly
|
|
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| Dentin Dysplasia |
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Dentinal Dysplasia
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Dd
|
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Dysplasia, Dentin
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Shell Teeth
|
|
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| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Hmc Syndrome
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Bixler Christian Gorlin Syndrome
|
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Bixler-Christian-Gorlin Syndrome
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Hypertelorism-Microtia-Facial Clefting Syndrome
|
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Bixler Syndrome
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Hypertelorism-Microtia-Clefting Syndrome
|
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Hypertelorism Microtia Facial Clefting Syndrome
|
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| Headache |
|
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| Jackson-Weiss Syndrome |
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JWS
|
Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
|
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Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome
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Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
|
|
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| Muenke Syndrome |
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Muenke Nonsyndromic Coronal Craniosynostosis
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Fgfr3-Related Craniosynostosis
|
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Fgfr3-Associated Coronal Synostosis
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Coronal Craniosynostosis
|
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MNKES
|
Syndrome Of Coronal Craniosynostosis
|
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MNKS
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Fgfr3-Related Isolated Coronal Synostosis
|
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Muenke Non-Syndromic Coronal Craniosynostosis
|
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| Neural Tube Defects |
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Spina Bifida
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Neural Tube Defect
|
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NTD
|
Neural Tube Defects, Susceptibility To
|
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Spinal Dysraphism
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Spina Bifida, Susceptibility To
|
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Rachischisis
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Cleft Spine
|
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Open Spine
|
Hydrocele Spinalis
|
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Neural Tube Defect Nos
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Sb - [Spina Bifida]
|
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Spinal Hernia Nos
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Spinal Fissure Nos
|
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| Amelogenesis Imperfecta |
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Ai
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Congenital Enamel Hypoplasia
|
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Al - [Amelogenesis Imperfecta]
|
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| Cleft Lip |
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Cheiloschisis
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Labium Leporinum
|
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Cleft Lip, Unilateral, Complete
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Complete Unilateral Cleft Lip
|
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Hare Lip
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Congenital Fissure Of Lip
|
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Isolated Cleft Lip
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Cleft Lip Without Cleft Palate
|
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Cleft Lip Without Cleft Palate, Unilateral
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Isolated Cleft Lip, Unilateral
|
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Cleft Lip Without Cleft Palate, Bilateral
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Isolated Cleft Lip, Bilateral
|
|
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| Frontonasal Dysplasia 1 |
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Frontorhiny
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Frontonasal Dysplasia
|
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Fnd
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Frontonasal Malformation
|
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Fnm
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Median Facial Cleft Syndrome
|
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Midline Facial Cleft
|
FND1
|
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Median Cleft Face Syndrome
|
Median Cleft Syndrome
|
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Frontonasal Dysplasia Sequence
|
Median Facial Cleft
|
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Tessier Number 0-14 And 30 Facial Cleft
|
Alx3-Related Frontonasal Dysplasia
|
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Frontonasal Dysplasia Type 1
|
Isolated Median Cleft Face Syndrome
|
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Doid:0081044
|
Doid:0081045
|
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Dysplasia, Frontonasal, Type
|
|
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| Achondroplasia |
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Achondroplastic Dwarfism
|
ACH
|
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Osteosclerosis Congenita
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Achondroplastic Physique
|
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Chondrodystrophia
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Dwarf, Achondroplastic
|
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Achondroplastic Short Stature
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Congenital Osteosclerosis
|
|
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| Bone Development Disease |
|
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| Apert Syndrome |
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Acrocephalosyndactyly Type I
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Acs1
|
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Acrocephalosyndactylia
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Acrocephalosyndactyly
|
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Acs I
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Apert-Crouzon Disease
|
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Acrocephalosyndactyly Type 1
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Acrocephalosyndactyly, Type I
|
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Acs 1
|
Acrocephalo-Syndactyly Type 1
|
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Syndactylic Oxycephaly
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Apert'S Syndrome
|
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Type I Acrocephalosyndactyly
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APRS
|
|
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| Baastrup'S Syndrome |
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Kissing Spine
|
Baastrup Syndrome
|
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Kissing Spine, Site Unspecified
|
Osteoarthrosis Interspinalis
|
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Overriding Of Dorsal Spinous Processes
|
Localised Idiopathic Skeletal Hyperostosis
|
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Baastrup Disease
|
|
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| Trichodentoosseous Syndrome |
|
Tricho-Dento-Osseous Syndrome
|
Tdo Syndrome
|
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Trichodontoosseous Syndrome
|
TDO
|
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Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
|
|
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| Craniofrontonasal Syndrome |
|
Craniofrontonasal Dysplasia
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CFNS
|
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Cfnd
|
Craniofrontonasal Dysostosis
|
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Craniofrontonasal Dystosis
|
Dysplasia, Craniofrontonasal
|
|
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| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
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CPI
|
Cp
|
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Palatoschisis
|
Cleft Palate Isolated
|
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Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
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Cleft Of Secondary Palate
|
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| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
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Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
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Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
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Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
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| Dysostosis |
|
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| Tooth Agenesis |
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Oligodontia
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Hypodontia
|
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Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
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Familial Tooth Agenesis
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Anodontia
|
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Congenital Absence Of One Tooth
|
|
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| Craniofacial Microsomia |
|
Goldenhar Syndrome
|
Hemifacial Microsomia
|
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Oculoauriculovertebral Spectrum
|
Oavs
|
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Oculo-Auriculo-Vertebral Spectrum
|
CFM
|
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Oav Dysplasia
|
Facioauriculovertebral Sequence
|
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Fav Sequence
|
First And Second Branchial Arch Syndrome
|
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Otomandibular Dysostosis
|
Hfm
|
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Oculoauriculovertebral Dysplasia
|
Facio-Auriculo-Vertebral Spectrum
|
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Facioauriculovertebral Dysplasia
|
Oculo-Auriculo-Vertebral Dysplasia
|
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First Arch Syndrome
|
Oav Dysplasia
|
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Goldenhar Disease
|
Expanded Spectrum Hemifacial Microsomia
|
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Expanded Spectrum Of Hemifacial Microsomia
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Oculoauriculovertebral Syndrome
|
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Oavd
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Asymmetric Hypoplasia Of Facial Structures
|
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Auriculobranchiogenic Dysplasia
|
Fav
|
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First And Second Pharyngeal Arch Syndromes
|
Goldenhar-Gorlin Syndrome
|
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Lateral Facial Dysplasia
|
Oav Complex
|
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Oral-Mandibular-Auricular Syndrome
|
Unilateral Intrauterine Facial Necrosis
|
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Unilateral Mandibulofacial Dysostosis
|
Oav Spectrum
|
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Oculoauricular Vertebral Dysplasia
|
Microsomia, Hemifacial
|
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Goldenhar Syndrome With Ipsilateral Radial Defect
|
|
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| Pfeiffer Syndrome |
|
Infectious Mononucleosis
|
Acs5
|
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Craniofacial-Skeletal-Dermatologic Dysplasia
|
Acs V
|
|
Noack Syndrome
|
Gammaherpesviral Mononucleosis
|
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Acrocephalosyndactyly Type 5
|
Pfeiffer Syndrome Type 3
|
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Acrocephalosyndactyly, Type V
|
Glandular Fever
|
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Pfeiffer Type Acrocephalosyndactyly
|
Pfeiffer Syndrome Type 2
|
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Acrocephalosyndactylia Type V
|
Filatov'S Disease
|
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Monocytic Angina
|
Mononucleosis
|
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Pfeiffer'S Disease
|
Acsv
|
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Acrocephalosyndactyly, Type 5
|
Craniofacial-Skeletal-Dermatologic Syndrome
|
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Pfeiffer Syndrome Type 1
|
Classic Pfeiffer Syndrome
|
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PS
|
Pfeiffer Syndrome Variant
|
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Dysplasia, Craniofacial-Skeletal-Dermatologic
|
Pfeiffer
|
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Kissing Disease
|
Infectious Adenitis
|
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Pfeiffer Disease
|
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| Arterial Calcification Of Infancy |
|
Idiopathic Infantile Arterial Calcification
|
Generalized Arterial Calcification Of Infancy
|
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Iiac
|
Occlusive Infantile Arteriopathy
|
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Infantile Arteriosclerosis
|
Gaci
|
|
Idiopathic Obliterative Arteriopathy
|
Generalized Arterial Calcification In Infancy
|
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Arteriopathia Calcificans Infantum
|
Diffuse Arterial Calcifying Elastopathy Of Infancy
|
|
Infantile Calcifying Arteriopathy
|
Medial Coronary Sclerosis Of Infancy
|
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Coronary Sclerosis, Medial, Of Infancy
|
Calcification, Arterial, Generalized, Infancy
|
|
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| Orofacial Cleft |
|
|
| Aortic Valve Disease 1 |
|
Aortic Valve Disease
|
Bicuspid Aortic Valve
|
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Aortic Valve Disorder
|
AOVD1
|
|
Bav
|
Bicuspid Aortic Valve Disease
|
|
Familial Bicuspid Aortic Valve
|
Aortic Valve Calcification
|
|
Aovd
|
Aortic Valve, Bicuspid
|
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Aortic Valve, Calcification Of
|
Aortic Stenosis, Calcific
|
|
Familial Bav
|
Calcific Aortic Stenosis
|
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Calcification Of Aortic Valve
|
Abnormality Of The Aortic Valve
|
|
Aortic Valve Disease, Type 1
|
Aortic Valve Disease 2
|
|
Bicommissural Aortic Valve
|
|
|
| Carpenter Syndrome 1 |
|
Carpenter Syndrome
|
Acrocephalopolysyndactyly Type Ii
|
|
Acps Ii
|
CRPT1
|
|
Acrocephalopolysyndactyly Type 2
|
Acrocephalosyndactyly, Type Ii
|
|
Acrocephalopolysyndactyly 2
|
Acps2
|
|
Acps 2
|
Type Ii Acrocephalosyndactyly
|
|
Carpenter Syndrome, Type 1
|
Apert-Crouzon Disease
|
|
|
| Robinow Syndrome |
|
Acral Dysostosis With Facial And Genital Abnormalities
|
Fetal Face Syndrome
|
|
Robinow Dwarfism
|
Mesomelic Dwarfism-Small Genitalia Syndrome
|
|
Robinow-Silverman-Smith Syndrome
|
Costovertebral Segmentation Defect With Mesomelia
|
|
Covesdem Syndrome
|
Robinow'S Syndrome
|
|
Robinow-Silverman Syndrome
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
