| 疾病名称 |
别名 |
|
| Chondrodysplasia, Blomstrand Type |
|
Chondrodysplasia Blomstrand Type
|
BOCD
|
|
Blomstrand Lethal Chondrodysplasia
|
Blomstrand Lethal Osteochondrodysplasia
|
|
Blomstrand'S Lethal Chondrodysplasia
|
Blc
|
|
Blomstrand Chondrodysplasia
|
Blomstrand Osteochondrodysplasia
|
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal Chondrodysplasia, Murk Jansen Type
|
Jansen'S Metaphyseal Chondrodysplasia
|
|
MCDJ
|
Murk Jansen Type Metaphyseal Chondrodysplasia
|
|
Jansen Type Metaphyseal Chondrodysplasia
|
Jansen Disease
|
|
Jansen Metaphyseal Chondrodysplasia
|
Jansen Metaphyseal Dysostosis
|
|
Metaphyseal Chondrodysplasia Murk Jansen Type
|
Chondrodysplasia, Metaphyseal, Murk Jansen Type
|
|
|
| Eiken Syndrome |
|
Eiken Skeletal Dysplasia
|
Bone Modeling Defect Of Hands And Feet
|
|
EKNS
|
|
|
| Failure Of Tooth Eruption, Primary |
|
Primary Failure Of Tooth Eruption
|
PFE
|
|
Primary Retention Of Teeth
|
Unerupted Second Primary Molar
|
|
Dental Noneruption
|
Familial Posterior Openbite Malocclusion
|
|
Primary Failure Of Tooth Eruption, Nonsyndromic
|
Posterior Openbite Malocclusion, Familial
|
|
Nonsyndromic Primary Failure Of Eruption
|
Dental Non-Eruption
|
|
Non-Syndromic Primary Failure Of Eruption
|
Tooth Eruption, Failure, Primary
|
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
Ollier Disease
|
Enchondromatosis
|
|
Dyschondroplasia
|
Osteochondromatosis
|
|
Multiple Cartilaginous Enchondroses
|
Multiple Enchondromatosis
|
|
Enchondromatosis With Haemangiomata
|
Enchondromatosis, Multiple
|
|
Kast'S Syndrome
|
Ollier'S Syndrome
|
|
Enchondromatosis Multiple
|
ENCHOM
|
|
Maffucci Disease
|
Olliers Disease
|
|
Hereditary Multiple Exostoses
|
Chondromatosis
|
|
|
| Pseudohypoparathyroidism |
|
Familial Pseudohypoparathyroidism
|
Parathyroid Hormone Resistant Hypoparathyroidism
|
|
Php - [Pseudohypoparathyroidism]
|
Constitutional Chronic Hypocalcaemia
|
|
|
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism Type 1b
|
PHP1B
|
|
Pseudohypoparathyroidism Ib
|
Pseudohypoparathyroidism Type Ib
|
|
Php Ib
|
Pseudohypoparathyroidism 1b
|
|
|
| Achondroplasia |
|
Achondroplastic Dwarfism
|
ACH
|
|
Osteosclerosis Congenita
|
Achondroplastic Physique
|
|
Chondrodystrophia
|
Dwarf, Achondroplastic
|
|
Achondroplastic Short Stature
|
Congenital Osteosclerosis
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Hypoparathyroidism |
|
Hypoparathyroidism, Idiopathic
|
Parathyroid, Underactivity Of
|
|
Syndrome With Hypoparathyroidism
|
Deficiency Of Parathyroid Hormone
|
|
Parathyroid Gland Insufficiency
|
Parathyroid Insufficiency
|
|
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
|
|
|
| Chondroblastoma |
|
|
| Tooth Ankylosis |
|
Ankylosis Of Teeth
|
Ankylosis Of Tooth
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Thanatophoric Dysplasia, Type I |
|
Thanatophoric Dysplasia
|
Thanatophoric Dwarfism
|
|
Thanatophoric Dysplasia Type 1
|
TD1
|
|
Td
|
Thanatophoric Short Stature
|
|
Thanatophoric Dwarfism Type 1
|
Thanatophoric Dysplasia Type I
|
|
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
|
|
Skeletal Dysplasia, San Diego Type
|
Plsd San Diego Type
|
|
Thanatophoric Dwarfism 1
|
Dwarfism Thanatophoric
|
|
Dwarf, Thanatophoric
|
Thanatophoric Dysplasia 1
|
|
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
|
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
|
|
Thanatophoric Dwarf
|
Thanatophoric Dwarfism Or Short Stature
|
|
Thanatophoric Dwarfism Syndrome
|
Td - [Thanatophoric Dwarfism]
|
|
|
| Hypercalcemia, Infantile, 1 |
|
HCINF1
|
Infantile Hypercalcemia
|
|
Hypercalcemia
|
Hypercalcemia, Idiopathic, Of Infancy
|
|
Hypercalcemia Infantile
|
Idiopathic Hypercalcemia Of Infancy
|
|
Hypercalcemia, Infantile
|
Hypercalcemia, Infantile, Type 1
|
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
Maffucci Syndrome
|
Chondrodysplasia With Hemangioma
|
|
Chondroplasia Angiomatosis
|
Enchondromatosis With Hemangiomata
|
|
Hemangiomatosis Chondrodystrophica
|
Kast Syndrome
|
|
Multiple Angiomas And Endochondromas
|
Dyschondrodysplasia With Hemangiomas
|
|
Enchondromatosis Type Ii
|
Enchondromatosis With Multiple Cavernous Hemangiomas
|
|
Dyschondroplasia And Cavernous Hemangioma
|
Hemangiomata With Dyschondroplasia
|
|
|
| Primary Hyperparathyroidism |
|
Familial Primary Hyperparathyroidism
|
Hyperparathyroidism, Primary
|
|
Hyperparathyroidism Primary
|
Hypocalciuric Hypercalcemia, Familial, Type 1
|
|
Familial Benign Hypercalcemia
|
Familial Hyperparathyroidism
|
|
Parathyroid Enlargement
|
|
|
| Metachondromatosis |
|
|
| Hypophosphatemia |
|
Vitamin D-Resistant Rickets
|
Hereditary Hypophosphatemic Rickets
|
|
Vdrr
|
Vitamin D Resistant Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Familial Hypophosphatemic Rickets
|
|
|
| Hyperparathyroidism |
|
Hyperparathyroidism And Other Disorders Of Parathyroid Gland
|
Parathyroid Hyperfunction
|
|
Hpth - [Hyperparathyroidism]
|
Parathyroid Gland Hyperfunction
|
|
Parathyroid Glandular Hyperfunction
|
|
|
| Osteonecrosis |
|
Bone Necrosis
|
Avascular Necrosis Of Bone
|
|
Aseptic Necrosis
|
Necrosis Of Bone Nos
|
|
Aseptic Osteonecrosis
|
Aseptic Necrosis Of Bone, Site Unspecified
|
|
Aseptic Or Avascular Bone Necrosis
|
Aseptic Necrosis Of Bone
|
|
Necrotic Bone
|
Necrotizing Bone
|
|
Spontaneous Osteonecrosis
|
Osteoradionecrosis
|
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
|
Smd
|
Smed Strudwick Type
|
|
SEMDSTWK
|
Smed, Type I
|
|
Semdc
|
Smed Type 1
|
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
|
| 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
|
|
|
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly With Hypertension
|
Bilginturan Syndrome
|
|
HTNB
|
Brachydactyly-Arterial Hypertension Syndrome
|
|
Brachydactyly, Type E, With Short Stature And Hypertension
|
Bilginturan Brachydactyly
|
|
Brachydactyly Type E With Short Stature And Hypertension
|
Type E Brachydactyly With Short Stature And Hypertension
|
|
Brachydactyly Type E, With Short Stature And Hypertension
|
Hypertension With Brachydactyly
|
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
Ighd Ia
|
Primordial Dwarfism
|
|
Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
|
Pituitary Dwarfism I
|
IGHD1A
|
|
Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
|
Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
|
Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
|
Dwarfism
|
|
|
| Acrodysostosis |
|
Acrodysplasia
|
Arkless-Graham Syndrome
|
|
Maroteaux-Malamut Syndrome
|
Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome
|
|
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
|
|
|
| Metaphyseal Dysplasia |
|
Bakwin-Krida Syndrome
|
Pyle'S Disease
|
|
Pyle-Cohn Syndrome
|
|
|
| Osteogenic Sarcoma |
|
Osteosarcoma
|
OSRC
|
|
Osteosarcoma, Somatic
|
Neoplasms, Bone Tissue
|
|
Bone Tissue Neoplasm
|
Osteoid Sarcoma
|
|
Skeletal Sarcoma
|
Osteosarcoma Of Bone
|
|
Bone Sarcoma
|
|
|
| Pseudohypoparathyroidism, Type Ia |
|
Albright'S Hereditary Osteodystrophy
|
Albright Hereditary Osteodystrophy
|
|
Pseudohypoparathyroidism Type 1a
|
PHP1A
|
|
Albright Hereditary Osteodystrophy With Multiple Hormone Resistance
|
Pseudohypoparathyroidism Ia
|
|
AHO
|
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
|
|
Pseudo-Pseudohypoparathyroidism
|
Pseudohypoparathyroidism Type I A
|
|
Php Ia
|
Pseudopseudohypoparathyroidism
|
|
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance
|
Pphp
|
|
Pseudopseudo-Hypoparathyroidism
|
Aho-Php Syndrome Ia
|
|
Albright Hereditary Osteodystrophy-Php Syndrome Ia
|
Pseudohypoparathyroidism 1a
|
|
Pseudohypoparathyroidism
|
|
|
| Spindle Cell Hemangioma |
|
Sch
|
Spindle Cell Hemangioendothelioma
|
|
|
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome
|
Smed-Sl
|
|
Smed-Sl/Ac
|
Smed Short Limb-Abnormal Calcification Type
|
|
Smed Short Limb-Hand Type
|
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type
|
|
Smed, Type Ii
|
Smed Type 2
|
|
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type
|
Smed, Short Limb-Hand Type
|
|
Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
|
Smed, Short Limb-Abnormal Calcification Type
|
|
Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification
|
Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type
|
|
SEMD-SL
|
Smed Type Ii
|
|
Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type
|
|
|
| Parathyroid Gland Disease |
|
Parathyroid Diseases
|
Disease Of Parathyroid Glands
|
|
Parathyroid Disease
|
|
|
| Otosclerosis |
|
|
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Catshl Syndrome
|
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
|
|
|
| Mineral Metabolism Disease |
|
Mineral Metabolism Disorder
|
Disorder Of Mineral Metabolism
|
|
|
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
SADDAN
|
Saddan Dysplasia
|
|
Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans
|
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
|
|
Ssb Syndrome
|
Skeleton Skin Brain Syndrome
|
|
Skeleton-Skin-Brain Syndrome
|
Achondroplasia
|
|
|
| Mccune-Albright Syndrome |
|
Mass Syndrome
|
Polyostotic Fibrous Dysplasia
|
|
MAS
|
Fibrous Dysplasia Of Bone
|
|
Albright Syndrome
|
Mass Phenotype
|
|
Overlap Connective Tissue Disease
|
Mccune Albright Syndrome
|
|
Osteitis Fibrosa Disseminata
|
OCTD
|
|
Albright'S Disease
|
Pfd
|
|
Pofd
|
Albright'S Syndrome
|
|
Mccune-Albright Syndrome, Somatic, Mosaic
|
Albright'S Disease Of Bone
|
|
Albright'S Syndrome With Precocious Puberty
|
Albright-Mccune-Sternberg Syndrome
|
|
Albright-Sternberg Syndrome
|
Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty
|
|
Gonadotropin-Independent Female-Limited Sexual Precocity
|
Fibrous Dysplasia Polyostotic
|
|
Fibrous Dysplasia, Polyostotic
|
|
|
| Van Buchem Disease |
|
Hyperostosis Corticalis Generalisata
|
Hyperphosphatasemia Tarda
|
|
VBCH
|
Sost-Related Sclerosing Bone Dysplasia
|
|
Endosteal Hyperostosis Autosomal Recessive
|
Sclerosteosis
|
|
Endosteal Hyperostosis, Autosomal Recessive
|
Hyperotosis Corticalis Generalisata Familiaris
|
|
Sost Sclerosing Bone Dysplasia
|
Smith-Lemli-Opitz Syndrome
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Cleidocranial Dysplasia |
|
Cleidocranial Dysostosis
|
CLCD
|
|
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
|
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
|
CCD
|
Marie-Sainton Disease
|
|
Dysplasia Cleidocranial
|
Dento-Osseous Dysplasia
|
|
Marie-Sainton Syndrome
|
Dysplasia, Cleidocranial
|
|
|
| Bone Resorption Disease |
|
|
| Bone Remodeling Disease |
|
|
| Bone Development Disease |
|
|
