| 疾病名称 |
别名 |
|
| Anterior Segment Dysgenesis 3 |
|
Iridogoniodysgenesis, Type 1
|
Irid1
|
|
Iridogoniodysgenesis Anomaly, Autosomal Dominant
|
Igda
|
|
ASGD3
|
Iris Hypoplasia With Glaucoma
|
|
Glaucoma Iridogoniodysplasia, Familial
|
Anterior Segment Dysgenesis 3, Multiple Subtypes
|
|
Iridogoniodysgenesis Type 1
|
Glaucoma Iridogoniodysgenesia
|
|
Igda Syndrome
|
Iridogoniodysgenesis Anomaly
|
|
|
| Axenfeld-Rieger Syndrome, Type 3 |
|
Axenfeld-Rieger Syndrome Type 3
|
RIEG3
|
|
Anterior Chamber Cleavage Syndrome
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss
|
Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss
|
|
Rieger Syndrome Type 3
|
Axenfeld-Rieger Anomaly
|
|
Rieger Syndrome, Type 3
|
Axenfeld-Rieger Syndrome 3
|
|
Axenfeld Anomaly
|
Rieger Anomaly
|
|
Rieger Syndrome
|
Rieger Eye Malformation Sequence
|
|
|
| Isolated Aniridia |
|
|
| Axenfeld-Rieger Syndrome |
|
Axenfeld Syndrome
|
Rieger Syndrome
|
|
Rieger Anomaly
|
Axenfeld Anomaly
|
|
Anomaly, Rieger'S
|
Hagedoom Syndrome
|
|
Rgs - Rieger Syndrome
|
Rieger'S Anomaly
|
|
Goniodysgenesis Hypodontia
|
Iridogoniodysgenesis With Somatic Anomalies
|
|
Ars
|
Axenfeld And Rieger Anomaly
|
|
Axra
|
Axrs
|
|
Rieger Eye Malformation Sequence
|
|
|
| Anterior Segment Dysgenesis |
|
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Anterior Segment Dysgenesis 1 |
|
Anterior Segment Mesenchymal Dysgenesis
|
Anterior Segment Dysgenesis 1, Multiple Subtypes
|
|
ASGD1
|
Asmd
|
|
Anterior Segment Ocular Dysgenesis
|
Asod
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Ocular Anterior Segment Dysgenesis
|
|
Dysgenesis, Anterior Segment, Type 1
|
Axenfeld-Rieger Syndrome, Type 3
|
|
Irido-Corneal Dysgenesis
|
|
|
| Juvenile Glaucoma |
|
Glaucoma Of Childhood
|
Hydrophthalmos
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Hypertelorism And Tetralogy Of Fallot |
|
|
| Primary Congenital Glaucoma |
|
|
| Cakut |
|
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
|
Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
|
Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
| Open-Angle Glaucoma |
|
Glaucoma Simplex
|
Pigmentary Glaucoma
|
|
Wide-Angle Glaucoma
|
Glaucoma, Open-Angle
|
|
Open Angle Glaucoma
|
Glaucoma Open-Angle
|
|
Chronic Simple Glaucoma
|
Coag - [Chronic Open-Angle Glaucoma]
|
|
Csg - [Chronic Simple Glaucoma]
|
Poag - [Primary Open-Angle Glaucoma]
|
|
Oag - [Open-Angle Glaucoma]
|
Chronic Glaucoma
|
|
Chronic Open Angle Glaucoma
|
Simple Glaucoma
|
|
Chronic Noncongestive Glaucoma
|
Ltg - [Low Tension Glaucoma]
|
|
Noncongestive Glaucoma
|
Nonobstructive Glaucoma
|
|
Normal Pressure Glaucoma
|
Primary Low Tension Glaucoma
|
|
Low-Tension Glaucoma
|
Residual Stage Low Tension Glaucoma
|
|
Open Cleft Glaucoma
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
|
Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
Glaucoma
|
IOPQTL
|
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
|
Glaucoma Secondary To Drugs
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Congenital Hydrocephalus |
|
Hydrocephalus
|
Hydrocephalus Adverse Event
|
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
Hydrocephalus In Newborn
|
|
Congenital Hydrocephaly
|
|
|
| Syngnathia |
|
Cleft Palate-Lateral Synechia Syndrome
|
Cpls Syndrome
|
|
Cleft Palate Lateral Synechia Syndrome
|
|
|
| Distichiasis |
|
Eyelashes, Two Rows Of
|
Isolated Distichiasis
|
|
|
| Hydrophthalmos |
|
|
| Iris Disease |
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Miliaria Profunda |
|
Icd10cm:L74.2
|
Snomedct_us_2020_03_01:47317002
|
|
|
| Gillespie Syndrome |
|
GLSP
|
Aniridia, Cerebellar Ataxia And Mental Deficiency
|
|
Aniridia Cerebellar Ataxia Mental Deficiency
|
Aniridia, Cerebellar Ataxia, And Mental Retardation
|
|
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
|
Aniridia-Cerebellar Ataxia-Intellectual Disability
|
|
Aniridia-Cerebellar Ataxia-Mental Deficiency
|
Partial Aniridia-Cerebellar Ataxia-Oligophrenia
|
|
Aniridia, Cerebellar Ataxia, And Intellectual Disability
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Sclerocornea |
|
Isolated Congenital Sclerocornea
|
|
|
| Lymphedema-Distichiasis Syndrome |
|
Lymphedema With Distichiasis
|
Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus
|
|
LPHDST
|
Distichiasis-Lymphedema Syndrome
|
|
Lymphedema Distichiasis Syndrome
|
Hereditary Lymphedema-Distichiasis Syndrome
|
|
Lymphedema Distichiasis
|
|
|
| Intestinal Atresia |
|
|
| Primary Lymphedema |
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Megalocornea |
|
Isolated Congenital Megalocornea
|
Congenital Anterior Megalophthalmia
|
|
Anterior Megalophthalmos
|
Mgc1
|
|
Mgcn
|
Congenital Keratoglobus
|
|
|
| Miliaria Crystallina |
|
|
| Ring Dermoid Of Cornea |
|
RDC
|
Ring Dermoid Syndrome
|
|
Bilateral, Annular Limbal Dermoids With Corneal And Conjunctival Extension
|
Dermoid Of Cornea, Ring
|
|
|
| Otopalatodigital Syndrome, Type Ii |
|
Otopalatodigital Syndrome Type 2
|
Faciopalatoosseous Syndrome
|
|
OPD2
|
Opd Ii Syndrome
|
|
Opd Syndrome 2
|
Cranioorodigital Syndrome
|
|
Fpo
|
Oto-Palato-Digital Syndrome, Type Ii
|
|
Andre Syndrome
|
Oto-Palato-Digital Syndrome Type 2
|
|
Otopalatodigital Syndrome Type Ii
|
Cranio-Oro-Digital Syndrome
|
|
Opd 2 Syndrome
|
Opd Syndrome, Type 2
|
|
Taybi Syndrome
|
Otopalatodigital Syndrome 2
|
|
Oto-Palato-Digital Syndrome, Type 2
|
Oto-Palato-Digital Syndrome Type 1
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Persistent Hyperplastic Primary Vitreous |
|
Congenital Retinal Detachment
|
Ncrna Disease
|
|
Non-Syndromic Congenital Retinal Non-Attachment
|
Pfvs
|
|
Phpv
|
Persistent Fetal Vasculature Syndrome
|
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Wagr Syndrome
|
11p Partial Monosomy Syndrome
|
|
Chromosome 11p13 Deletion Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
|
|
11p Deletion Syndrome
|
Chromosome 11p Deletion Syndrome
|
|
Wagr Complex
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
|
|
Deletion 11p13
|
WAGR
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
|
Chromosome 11p Deletion
|
|
11p Deletion
|
11p Monosomy
|
|
Deletion 11p
|
Monosomy 11p
|
|
Partial Monosomy 11p
|
Agr Triad
|
|
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
|
|
Wagr Contiguous Gene Syndrome
|
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome
|
Del(11)(P13)
|
|
Monosomy 11p13
|
Chromosome 11, Deletion 11p
|
|
|
| Excessive Tearing |
|
Epiphora
|
Lacrimal Apparatus Diseases
|
|
Excessive Tear Production
|
Watering Eye
|
|
|
| Brachydactyly |
|
|
| Glaucoma, Primary Open Angle |
|
Glaucoma 1, Open Angle, E
|
Primary Open Angle Glaucoma
|
|
POAG
|
Adult-Onset Primary Open Angle Glaucoma
|
|
Chronic Simple Glaucoma
|
GLC1E
|
|
Primary Open Angle Glaucoma 1e
|
Glaucoma, Open Angle, Primary
|
|
|
| Dandy-Walker Syndrome |
|
Dandy-Walker Malformation
|
DWS
|
|
Atresia Of Foramina Of Magendie And Luschka
|
Dandy-Walker Complex
|
|
Dandy-Walker Cyst
|
Dandy-Walker Deformity
|
|
Dandy Walker Cyst
|
Dw Complex
|
|
Dandy-Walker Syndrome Or Malformation
|
Dandy-Walker Variant
|
|
Mega Cisterna Magna
|
Dwm
|
|
Hydrocephalus, Internal, Dandy-Walker Type
|
Hydrocephalus, Noncommunicating, Dandy-Walker Type
|
|
Luschka-Magendie Foramina Atresia
|
Isolated Dandy-Walker Malformation
|
|
Mega-Cisterna Magna
|
Dandy Walker Variant
|
|
Atresia Of Foramen Of Luschka
|
Atresia Of Foramen Of Magendie
|
|
Congenital Blockage Of Foramen Magendie
|
|
|
| Hypertelorism |
|
Eyes Wide Apart
|
Eyes Widely Set
|
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
|
Orbital Separation Excessive
|
|
|
| Glaucoma, Normal Tension |
|
Low Tension Glaucoma
|
Glaucoma, Normal Tension, Susceptibility To
|
|
Normal Tension Glaucoma
|
Ntg
|
|
Glaucoma, Normal Pressure
|
NPG
|
|
Glaucoma, Normal Pressure, Susceptibility To
|
Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Steroid-Induced Glaucoma |
|
Corticosteroid-Induced Glaucoma
|
|
|
| Acquired Color Blindness |
|
Acquired Color Vision Deficiencies
|
Acquired Color Vision Deficiency
|
|
Acquired Colour Blindness
|
Acquired Colour Vision Deficiencies
|
|
Acquired Colour Vision Deficiency
|
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
CADASIL2
|
Cadasil 2
|
|
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2
|
Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
|
|
Htra1-Related Autosomal Dominant Cerebral Angiopathy
|
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
|
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
|
|
|
| Corneal Disease |
|
Corneal Diseases
|
Corneal Disorders
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Lens Disease |
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Vesicoureteral Reflux |
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
