familial hypophosphatemic rickets

Preferred Label : familial hypophosphatemic rickets;

Obsolete resource : false;

MeSH definition : A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.;

MeSH synonym : hypophosphatemic rickets, familial; rickets, familial hypophosphatemic; hereditary hypophosphatemic rickets; hypophosphatemic rickets, hereditary; rickets, hereditary hypophosphatemic; vitamin D resistant rickets, hereditary; hereditary vitamin D-Resistant rickets; hereditary vitamin D resistant rickets; Vitamin D-Resistant Rickets, Hereditary; Hypocalcemic Vitamin D-Resistant Rickets; Hypocalcemic Vitamin D Resistant Rickets; Rickets, Hereditary Vitamin D-Resistant; Rickets, Hereditary Vitamin D Resistant; Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol; Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol; Generalized Resistance To 1,25-Dihydroxyvitamin D; Generalized Resistance To 1,25 Dihydroxyvitamin D;

CISMeF synonym : vitamin D resistant rickets;

MeSH hyponym : hypophosphatemic rickets, X-Linked recessive; rickets, X-Linked hypophosphatemic; vitamin D-Resistant rickets, X-Linked; hypophosphatemic rickets, X-Linked dominant; Vitamin D Resistant Rickets, X Linked; Hypophosphatemic Rickets, X Linked Recessive; Hypophosphatemic Rickets, X-Linked; X-Linked Hypophosphatemic Rickets; Hypophosphatemia, X-Linked; Hypophosphatemia, X Linked; X-Linked Hypophosphatemia; X Linked Hypophosphatemia; Hypophosphatemic Rickets, X Linked Dominant;

MeSH annotation : coordinate with GENETIC DISEASES, X-LINKED when citation about X-linked disease; coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed;

Wikipedia link : https://en.wikipedia.org/wiki/X-linked hypophosphatemia;

Details

Origin ID

D053098;

UMLS CUI

C3536983;

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)
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
- Dent Disease [NCIt concept]
- Disorders of phosphorus metabolism [ICD-10 Sub-category (who)]
- Familial hypophosphataemic rickets [ICD-11 More detail]
- Hereditary hypophosphataemic rickets [MedDRA Preferred Term]
- Hereditary hypophosphatemic rickets [MedDRA LLT]
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
- Hypophosphatemic rickets [HPO term]
- Hypophosphatemic rickets [MedDRA LLT]
- Hypophosphatemic rickets, autosomal dominant [OMIM Phenotype]
- Rickets (vitamin D resistant) [MedDRA LLT]
- Rickets - vitamin D resistant [MedDRA LLT]
- Rickets familial hypophosphataemic [MedDRA LLT]
- Vit D resistant rickets [MedDRA LLT]
- Vitamin D Dependent Rickets 2b [NCIt concept]
- Vitamin D-dependent rickets, type 2a [OMIM Phenotype]
- Vitamin-resistant rickets [PASCAL descriptor]
- X-linked Hypophosphatemic Rickets [NCIt concept]
- X-linked hypophosphataemia [MedDRA LLT]
- X-linked hypophosphataemia [ICD-11 More detail]
- X-linked hypophosphatemia [MedDRA LLT]
- X-linked hypophosphatemic rickets [ICD-11 More detail]
- X-linked recessive hypophosphatemic rickets [DO Concept]
- familial hypophosphatemic rickets [TUV Term]
- familial hypophosphatemic rickets [TUV Concept]
- hereditary vitamin D resistant rickets [Disease (Nov.)]
- vitamin d resistant rickets [Disease (Nov.)]
Currated CISMeF NLP mapping
- Familial hypophosphataemic rickets [MedDRA LLT]
- Familial hypophosphatemic rickets [MedDRA LLT]
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets, X-linked dominant [OMIM Phenotype]
- Hypophosphatemic rickets, X-linked recessive [OMIM Phenotype]
- Rickets familial hypophosphataemic [MedDRA Preferred Term]
- Rickets familial hypophosphatemic [MedDRA LLT]
- X linked hypophosphatemia [Disease (Nov.)]
- X-Linked Dominant Hypophosphatemic Rickets [NCIt concept]
- X-linked dominant hypophosphatemic rickets [DO Concept]
- X-linked hypophosphatemia [ORDO Disease]
DO Cross reference
- X-linked dominant hypophosphatemic rickets [DO Concept]
Manual BTNT mappings - CISMeF
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic renal tubular disease [ORDO Disease]
- Primary bone dysplasia with defective bone mineralization [ORDO Disease]
- Rare genetic parathyroid disease and phosphocalcic metabolism disorder [ORDO Disease]
- Rare parathyroid disease and phosphocalcic metabolism anomaly [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- PHEX phosphate regulating neutral endopeptidase [MeSH Descriptor]
Record concept(s)
- familial hypophosphatemic rickets [MeSH concept]
- hypophosphatemic rickets, X-Linked dominant [MeSH concept]
- hypophosphatemic rickets, X-Linked recessive [MeSH concept]
- rickets, X-Linked hypophosphatemic [MeSH concept]
- vitamin D-Resistant rickets, X-Linked [MeSH concept]
Related MeSH Supplementary Concept(s)
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH Supplementary Concept]
- hypophosphatemic rickets, autosomal dominant [MeSH Supplementary Concept]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH Supplementary Concept]
- hypophosphatemic rickets, autosomal recessive, 2 [MeSH Supplementary Concept]
- vitamin D Hydroxylation-Deficient rickets, type 1A [MeSH Supplementary Concept]
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH Supplementary Concept]
- vitamin D-Dependent rickets, type 2A [MeSH Supplementary Concept]
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH Supplementary Concept]
See also inter- (CISMeF)
- familial x-linked hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypophosphataemic rickets [MedDRA LLT]
- Familial hypophosphatemic rickets [MedDRA LLT]
- Hereditary hypophosphataemic rickets [MedDRA Preferred Term]
- Hereditary hypophosphatemic rickets [MedDRA LLT]
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
- Rickets familial hypophosphataemic [MedDRA Preferred Term]
- Rickets familial hypophosphataemic [MedDRA LLT]
- Rickets familial hypophosphatemic [MedDRA LLT]
- Vitamin D Dependent Rickets 2b [NCIt concept]
- Vitamin D-dependent rickets, type 2 (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Autosomal dominant hypophosphatemic rickets (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorders of phosphorus metabolism and phosphatases [ICD-10 Sub-category]

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