Hypophosphatasia [hypofosfatázie]
topical
16
- Terms
-
hypofosfatazemie
Persistent link
https://www.medvik.cz/link/D007014
Definition
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
- Annotation
- defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
- DUI
- D007014 MeSH Browser
- CUI
- M0010915
- History note
- 72(66)
- Public note
- 72
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 2
- CO
- complications 2
- DI
- diagnosis 11
- DG
- diagnostic imaging 1
- DH
- diet therapy 0
- DT
- drug therapy 4
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 2
- EH
- ethnology 0
- ET
- etiology 2
- GE
- genetics 7
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 3
- PP
- physiopathology 4
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 3
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
...
Occurrences in Medvik records
C
Diseases