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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001643
http://purl.bioontology.org/ontology/NDFRT/N0000001643
|
|---|---|
| Preferred Name | Hypophosphatasia [Disease/Finding] |
| Synonyms |
Hypophosphatasia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Hypophosphatasia
|
|---|---|
| prefLabel | Hypophosphatasia [Disease/Finding]
|
| MESH 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)
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| MESH DUI | D007014
|
| MESH UI | M0010915
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| MeSH name | Hypophosphatasia
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| type | |
| tui | T047
|
| SNOMED CID |
190859005
360792001
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| May be treated by | |
| notation | N0000001643
|
| Semantic type UMLS property | |
| NUI | N0000001643
|
| cui | C0020630
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |