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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): Maladie de Rathburn
Phosphoéthanolaminurie
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 sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
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
Hypophosphatasie - Preferred
Concept UI M0010915
Preferred term Hypophosphatasie
Entry term(s) Maladie de Rathburn
Phosphoéthanolaminurie



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