Thanatophoric Dysplasia [thanatoforní dysplazie]

topical
7
Terms

thanatoforická dysplazie

 

Dwarfism, Thanatophoric
Thanatophoric Dwarfism
Thanatophoric Short Stature

Persistent link   https://www.medvik.cz/link/D013796
Definition

A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.

DUI
D013796 MeSH Browser
CUI
M0021271
Previous indexing
Dwarfism (1966-1984); Skull (1966-1984)
History note
91(85); was see under OSTEOCHONDRODYSPLASIAS 1985-90
Public note
91; was see under OSTEOCHONDRODYSPLASIAS 1985-90

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 2
DG
diagnostic imaging 1
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 5
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.343 Dwarfism 97
C05.116.099.343.110 Achondroplasia 71
C05.116.099.343.110.500 Thanatophoric Dysplasia 7
C05.116.099.708 Osteochondrodysplasias 123
C05.116.099.708.017 Achondroplasia 71
C05.116.099.708.017.500 Thanatophoric Dysplasia 7
C05.660 Musculoskeletal Abnormalities 107
C05.660.585 Limb Deformities, Congenital 125
C05.660.585.174 Arachnodactyly 17
C05.660.585.262 Brachydactyly 4
C05.660.585.350 Ectromelia 23
C05.660.585.512 Lower Extremity Deformities, Congenital 54
C05.660.585.600 Polydactyly 31
C05.660.585.620 Proteus Syndrome 8
C05.660.585.800 Syndactyly 24
C05.660.585.984 Thanatophoric Dysplasia 7
C05.660.585.988 Upper Extremity Deformities, Congenital 14
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.585 Limb Deformities, Congenital 125
C16.131.621.585.174 Arachnodactyly 17
C16.131.621.585.262 Brachydactyly 4
C16.131.621.585.350 Ectromelia 23
C16.131.621.585.512 Lower Extremity Deformities, Congenital 54
C16.131.621.585.600 Polydactyly 31
C16.131.621.585.620 Proteus Syndrome 8
C16.131.621.585.800 Syndactyly 24
C16.131.621.585.984 Thanatophoric Dysplasia 7
C16.131.621.585.988 Upper Extremity Deformities, Congenital 14
C16.320 Genetic Diseases, Inborn 1 213
C16.320.240 Dwarfism 97
C16.320.240.500 Achondroplasia 71
C16.320.240.500.500 Thanatophoric Dysplasia 7
C16.614 Infant, Newborn, Diseases 1 946
C16.614.042 Amniotic Band Syndrome 6
C16.614.053 Anemia, Neonatal 22
C16.614.092 Asphyxia Neonatorum 172
C16.614.131 Birth Injuries 158
C16.614.166 Colic 125
C16.614.183 Congenital Bone Marrow Failure Syndromes 2
C16.614.200 Congenital Hyperinsulinism 24
C16.614.213 Cystic Fibrosis 1 328
C16.614.258 Epilepsy, Benign Neonatal 13
C16.614.304 Erythroblastosis, Fetal 140
C16.614.378 Hernia, Umbilical 45
C16.614.438 Hydrophthalmos 9
C16.614.451 Hyperbilirubinemia, Neonatal 65
C16.614.465 Hyperostosis, Cortical, Congenital 13
C16.614.492 Ichthyosis 62
C16.614.521 Infant, Premature, Diseases 317
C16.614.580 Meconium Aspiration Syndrome 35
C16.614.595 Mobius Syndrome 10
C16.614.610 Neonatal Abstinence Syndrome 74
C16.614.627 Neonatal Sepsis 35
C16.614.643 Nystagmus, Congenital 8
C16.614.660 OEIS Complex
C16.614.677 Ophthalmia Neonatorum 12
C16.614.694 Persistent Fetal Circulation Syndrome 17
C16.614.760 Rothmund-Thomson Syndrome 7
C16.614.810 Sclerema Neonatorum 2
C16.614.815 Severe Combined Immunodeficiency 63
C16.614.868 Syphilis, Congenital 87
C16.614.890 Thanatophoric Dysplasia 7
C16.614.899 Thrombocytopenia, Neonatal Alloimmune 14
C16.614.909 Toxoplasmosis, Congenital 75
C16.614.940 Vitamin K Deficiency Bleeding 22
C16.614.947 Wolman Disease 15

Kozlowski Warren Fisher syndrome Disease MeSH Browser

Larsen like syndrome, lethal type Disease MeSH Browser

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Disease MeSH Browser

Short limb dwarf lethal Colavita Kozlowski type Disease MeSH Browser

Skeletal dysplasia, San Diego type Disease MeSH Browser

Thanatophoric Dysplasia, Type I Disease MeSH Browser

Thanatophoric dysplasia Glasgow variant Disease MeSH Browser

Thanatophoric dysplasia, type 2 Disease MeSH Browser

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