Hypophosphatasia [hypofosfatázie] topical
- 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
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
123
Occurrences in Medvik records
C
Diseases
C16
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16.320 Genetic Diseases, Inborn
C16.320.565 Metabolism, Inborn Errors
C16.320.565.618 Metal Metabolism, Inborn Errors
C16.320.565.618.337 Hemochromatosis
C16.320.565.618.403 Hepatolenticular Degeneration
C16.320.565.618.482 Hypophosphatasia
C16.320.565.618.544 Hypophosphatemia, Familial
C16.320.565.618.590 Menkes Kinky Hair Syndrome
C16.320.565.618.711 Paralyses, Familial Periodic
C16.320.565.618.815 Pseudohypoparathyroidism
C18 Nutritional and Metabolic Diseases
C18.452 Metabolic Diseases
C18.452.648 Metabolism, Inborn Errors
C18.452.648.618 Metal Metabolism, Inborn Errors
C18.452.648.618.337 Hemochromatosis
C18.452.648.618.403 Hepatolenticular Degeneration
C18.452.648.618.482 Hypophosphatasia
C18.452.648.618.544 Hypophosphatemia, Familial
C18.452.648.618.590 Menkes Kinky Hair Syndrome
C18.452.648.618.711 Paralyses, Familial Periodic
C18.452.648.618.815 Pseudohypoparathyroidism