Achondroplasia [achondroplazie]
- Terms
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achondroplázie
chondrodystrophia fetalis
těžká achondroplazie s opožděným vývojem a acanthosis nigricans
těžká achondroplazie s vývojovým opožděním a hyperpigmentací
těžká achondroplázie s vývojovým opožděním a hyperpigmentací
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Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
SADDAN
SADDAN Dysplasia
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans
Skeleton-Skin-Brain Syndrome
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
- DUI
- D000130 MeSH Browser
- CUI
- M0000205
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 2
- CO
- complications 6
- DI
- diagnosis 13
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 6
- EC
- economics
- EM
- embryology 1
- EN
- enzymology
- EP
- epidemiology 1
- EH
- ethnology
- ET
- etiology 7
- GE
- genetics 20
- HI
- history 2
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality 1
- NU
- nursing
- PS
- parasitology
- PA
- pathology 6
- PP
- physiopathology 5
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 3
- TH
- therapy 9
- UR
- urine
- VE
- veterinary
- VI
- virology
Achondrogenesis type 1A Disease MeSH Browser
Achondrogenesis type 1B Disease MeSH Browser
Achondrogenesis type 2 Disease MeSH Browser
Achondrogenesis, type 3 Disease MeSH Browser
Achondrogenesis, type 4 Disease MeSH Browser
Achondroplasia and Swiss type agammaglobulinemia Disease MeSH Browser
Achondroplastic dwarfism Disease MeSH Browser
Baby rattle pelvic dysplasia Disease MeSH Browser
Dyssegmental dysplasia, Rolland-Desbuquois type Disease MeSH Browser
Pseudoachondroplasia Disease MeSH Browser
Pseudoachondroplastic dysplasia 2 Disease MeSH Browser
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency Disease MeSH Browser