hypophosphatasia

Preferred Label : hypophosphatasia;

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);

MeSH synonym : hypophosphatasias;

MeSH annotation : defic of blood phosphatases; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Hypophosphatasia;

Details

Origin ID

D007014;

UMLS CUI

C0020630;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Disorders of phosphorus metabolism [ICD-10 Sub-category (who)]
- Hypophosphatasia [ICD-11 More detail]
- Hypophosphatasia [ACR pathology]
- Hypophosphatasia [ACR pathology]
- Hypophosphatasia [ACR pathology]
- Hypophosphatasia [ACR pathology]
- Infantile hypophosphatasia (disorder) [SNOMED CT concept]
- Phosphoethanolaminuria [ICD-11 More detail]
- Phosphoethanolaminuria [HPO term]
- Pseudohypophosphatasia (disorder) [SNOMED CT concept]
- pseudohypophosphatasia [SNOMED Notion]
CISMeF manual mappings
- Deficiency of alkaline phosphatase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypophosphatasia [PASCAL descriptor]
- Hypophosphatasia [MedDRA Preferred Term]
- Hypophosphatasia [NCIt concept]
- Hypophosphatasia [ORDO Disease]
- Hypophosphatasia (disorder) [SNOMED CT concept]
- hypophosphatasia [Disease (Nov.)]
- hypophosphatasia [DO Concept]
- hypophosphatasia, nos [SNOMED Notion]
DO Cross reference
- hypophosphatasia [DO Concept]
Indexing information
- asfotase alfa [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Primary bone dysplasia with defective bone mineralization [ORDO Disease]
- Rare disease with odontological manifestation [ORDO Disease]
ORDO relation(s)
- Hypophosphatasia [ORDO Disease]
Record concept(s)
- hypophosphatasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- hypophosphatasia, adult [MeSH Supplementary Concept]
- hypophosphatasia, childhood [MeSH Supplementary Concept]
- hypophosphatasia, infantile [MeSH Supplementary Concept]
- hypophosphatasia, perinatal lethal [MeSH Supplementary Concept]
- odontohypophosphatasia [MeSH Supplementary Concept]
See also
- alkaline phosphatase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of alkaline phosphatase (disorder) [SNOMED CT concept]
- Hypophosphatasia [ORDO Disease]
- Hypophosphatasia [MedDRA Preferred Term]
- Hypophosphatasia [PASCAL descriptor]
- Hypophosphatasia [NCIt concept]
- Hypophosphatasia (disorder) [SNOMED CT concept]
- hypophosphatasia [DO Concept]
- hypophosphatasia [Disease (Nov.)]
- hypophosphatasia, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorders of phosphorus metabolism and phosphatases [ICD-10 Sub-category]

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