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Descriptor English: Hypophosphatasia
Descriptor Spanish: Hipofosfatasia
Descriptor hipofosfatasia
Scope note: Trastorno metabólico genético por deficiencia de fosfata alcalina sérica y ósea que conduce a hipercalcemia, etanolamina fosfatemia y etanolemia fosfaturia. Las manifestaciones clínicas consisten en defectos esqueléticos graves que recuerdan al raquitismo resistente a la vitamina D, falta de calcificación de la bóveda craneal, disnea, cianosis, vómitos, estreñimiento, calcinosis renal, falta de crecimiento y desarrollo, trastornos del movimiento, rosario de la unión costocondral y alteraciones óseas raquíticas. (Dorland, 28a ed)
Descriptor Portuguese: Hipofosfatasia
Descriptor French: Hypophosphatasie
Entry term(s): Hypophosphatasias
Tree number(s): C16.320.565.618.482
C18.452.648.618.482
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D007014
Scope note: 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 Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 72
History Note: 72(66)
DeCS ID: 7193
Unique ID: D007014
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1972/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Hypophosphatasia - Preferred
Concept UI M0010915
Scope note 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)
Preferred term Hypophosphatasia
Entry term(s) Hypophosphatasias



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