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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D007014
http://purl.bioontology.org/ontology/MESH/D007014
|
|---|---|
| Preferred Name | Hypophosphatasia |
| Definitions |
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)
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| Synonyms |
Hypophosphatasias
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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) |
|---|---|
| altLabel | Hypophosphatasias
|
| prefLabel | Hypophosphatasia
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| TH |
NLM (1966)
GHR (2014)
ORD (2010)
|
| notation | D007014
|
| DX | 19720101
|
| Machine permutation | 72
|
| MN |
C18.452.648.618.482
C16.320.565.618.482
|
| MMR | 20130708
|
| Mapped from | |
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN | 72(66)
|
| subClassOf | |
| Semantic type UMLS property | |
| DC | 1
|
| MDA | 19990101
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| Inverse of RO | |
| type | |
| tui | T047
|
| cui | C0020630
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| AN | defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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| Inverse of AQ |
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| TERMUI | T021020
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