hypophosphatemia, familial

Preferred Label : hypophosphatemia, familial;

MeSH definition : An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.;

MeSH synonym : hypophosphatemias, familial; familial hypophosphatemias; familial hypophosphatemia;

Related MeSH term : phosphaturia; Diabetes, Phosphate; Hyperphosphaturia; Phosphate Diabetes;

MeSH annotation : a clinical entity: not for decreased blood phosphate levels ( PHOSPHATES /blood);

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

Details

Origin ID

D007015;

UMLS CUI

C0020631;

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)]
- Familial hypophosphataemic rickets [MedDRA LLT]
- Familial hypophosphatemic rickets [MedDRA LLT]
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- Hereditary hypophosphataemic rickets [MedDRA Preferred Term]
- Hereditary hypophosphatemic rickets [MedDRA LLT]
- Hyperphosphaturia [ICD-11 More detail]
- Hyperphosphaturia [HPO term]
- Hyperphosphaturia [MedDRA Preferred Term]
- Hyperphosphaturia (disorder) [SNOMED CT concept]
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
- Hypophosphataemic rickets [MedDRA Preferred Term]
- Hypophosphataemic rickets [MedDRA LLT]
- Hypophosphatemic rickets [PASCAL descriptor]
- Hypophosphatemic rickets [HPO term]
- Hypophosphatemic rickets [MedDRA LLT]
- Hypophosphatemic rickets [ORDO Disease]
- Hypophosphatemic rickets, X-linked dominant [OMIM Phenotype]
- Hypophosphatemic rickets, X-linked recessive [OMIM Phenotype]
- Phosphate diabetes [ICD-11 More detail]
- Phosphaturia [ICD-11 More detail]
- Phosphaturia [NCIt concept]
- Renal phosphaturia (disorder) [SNOMED CT concept]
- Rickets (vitamin D resistant) [MedDRA LLT]
- Rickets - vitamin D resistant [MedDRA LLT]
- Rickets familial hypophosphataemic [MedDRA Preferred Term]
- Rickets familial hypophosphatemic [MedDRA LLT]
- Vitamin D Dependent Rickets 2b [NCIt concept]
- X-Linked Dominant Hypophosphatemic Rickets [NCIt concept]
- X-linked hypophosphatemia [ORDO Disease]
- familial hypophosphatemic rickets [TUV Concept]
- familial hypophosphatemic rickets [TUV Term]
- familial x-linked hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
- hyperphosphaturia [SNOMED Notion]
- phosphaturia [CISMeF Querying Strategy]
Currated CISMeF NLP mapping
- Hypocalcaemic rickets [Vue CIM-11]
- Hypocalcemic rickets [TUV Concept]
- Hypocalcemic rickets [TUV Term]
- Hypocalcemic rickets [ORDO Disease]
False automatic mappings
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
- Primary bone dysplasia with defective bone mineralization [ORDO Disease]
MeSH Descriptor(s) used for indexing
- hypophosphatemia [MeSH Descriptor]
Record concept(s)
- hypophosphatemia, familial [MeSH concept]
- phosphaturia [MeSH concept]
Related MeSH Supplementary Concept(s)
- hypophosphatemia, renal, with intracerebral calcifications [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- hypophosphatemia [MeSH Descriptor]
- rickets [MeSH Descriptor]
See also inter- (CISMeF)
- hyperphosphaturia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypocalcemic rickets [ORDO Disease]
- Hypocalcemic rickets [TUV Concept]
- Hypocalcemic rickets [TUV Term]
Validated automatic mappings to BTNT
- X linked hypophosphatemia [Disease (Nov.)]
Validated automatic mappings to NTBT
- Disorders of phosphorus metabolism and phosphatases [ICD-10 Sub-category]

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