pseudohypoparathyroidism

Preferred Label : pseudohypoparathyroidism;

MeSH definition : A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.;

MeSH synonym : pseudohypoparathyroidisms;

MeSH hyponym : pseudohypoparathyroidism, type Ib; pseudohypoparathyroidism, type ia; Pseudohypoparathyroidisms, Type Ib; Type Ib Pseudohypoparathyroidism; Type Ib Pseudohypoparathyroidisms; PHD1b; PHD Ib; PHD Ibs; Pseudohypoparathyroidisms, Type Ia; Type Ia Pseudohypoparathyroidism; Type Ia Pseudohypoparathyroidisms; Albright Hereditary Osteodystrophy with Multiple Hormone Resistance; PHP Ia; Albright Hereditary Osteodystrophy; Hereditary Osteodystrophy, Albright; Osteodystrophy, Albright Hereditary; PHPIa; Pseudohypoparathyroidism Type 1B; Pseudohypoparathyroidism Type 1Bs;

MeSH annotation : do not confuse with PSEUDOPSEUDOHYPOPARATHYROIDISM;

Details

Origin ID

D011547;

UMLS CUI

C0033806;

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)
- Pseudohypoparathyroidism type 1A [ORDO Disease]
- Pseudohypoparathyroidism type 1C [ICD-11 More detail]
- Pseudohypoparathyroidism type 1C [ORDO Disease]
- Pseudohypoparathyroidism type 1C (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy [ICD-11 More detail]
- Pseudohypoparathyroidism, type ia [OMIM Phenotype]
- Pseudohypoparathyroidism, type ib [OMIM Phenotype]
- Pseudohypoparathyroidism, type ic [OMIM Phenotype]
- pseudohypoparathyroidism type IB [DO Concept]
Currated CISMeF NLP mapping
- HYPOPARATHYROIDISM [WHO-ART Preferred Term]
- Hypercalcemia [ICD-9 code]
- Hypocalcemia [ICD-9 code]
- Hypoparathyroidism [ICD-10 category]
- Hypoparathyroidism [ICD-9 code]
- Hypoparathyroidism [ICD-10 category (who)]
- Hypoparathyroidism [HPO term]
- Hypoparathyroidism [MedDRA Preferred Term]
- Hypoparathyroidism [NCIt concept]
- Hypoparathyroidism (disorder) [SNOMED CT concept]
- Hypoparathyroidy [HRDO Sign]
- Other hypoparathyroidism [ICD-10 Sub-category]
- Other hypoparathyroidism [ICD-10 Sub-category (who)]
- Parathyroid Hormone Resistance [NCIt concept]
- Pseudohypoparathyroidism [PASCAL descriptor]
- Pseudohypoparathyroidism [NCIt concept]
- Pseudohypoparathyroidism [ICD-10 Sub-category]
- Pseudohypoparathyroidism [MedDRA Preferred Term]
- Pseudohypoparathyroidism [ICD-10 Sub-category (who)]
- Pseudohypoparathyroidism [ICD-11 Subcategory]
- Pseudohypoparathyroidism [TUV Concept]
- Pseudohypoparathyroidism [TUV Term]
- Pseudohypoparathyroidism [HPO term]
- Pseudohypoparathyroidism [ORDO Disease]
- Pseudohypoparathyroidism (disorder) [SNOMED CT concept]
- Pseudopseudohypoparathyroidism [OMIM Phenotype]
- hypoparathyroidism, nos [SNOMED Notion]
- normocalcemic pseudohypoparathyroidism [SNOMED Notion]
- pseudohypoparathyroidism [Disease (Nov.)]
- pseudohypoparathyroidism [DO Concept]
- pseudohypoparathyroidism, nos [SNOMED Notion]
DO Cross reference
- pseudohypoparathyroidism [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
False automatic mappings
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
HPO term
- Pseudohypoparathyroidism [HPO term]
Manual BTNT mappings - CISMeF
- Pseudohypoparathyroidism type 1B [ORDO Disease]
- Pseudohypoparathyroidism type 2 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Genetic hypoparathyroidism [ORDO Disease]
- Genetic renal tubular disease [ORDO Disease]
- Rare hypoparathyroidism [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
ORDO relation(s)
- Pseudohypoparathyroidism [ORDO Disease]
Record concept(s)
- pseudohypoparathyroidism [MeSH concept]
- pseudohypoparathyroidism, type Ib [MeSH concept]
- pseudohypoparathyroidism, type ia [MeSH concept]
Related MeSH Supplementary Concept(s)
- pseudohypoparathyroidism type 1B [MeSH Supplementary Concept]
- pseudohypoparathyroidism type 1C [MeSH Supplementary Concept]
- pseudohypoparathyroidism type 2 [MeSH Supplementary Concept]
See also
- GTP-Binding protein alpha subunits, gs [MeSH Descriptor]
- Pseudohypoparathyroidism type I A (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Albright Hereditary Osteodystrophy without Multiple Hormone Resistance [NCIt concept]
- hypoparathyroidism [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism [ORDO Disease]
- Pseudohypoparathyroidism [NCIt concept]
- Pseudohypoparathyroidism [MedDRA Preferred Term]
- Pseudohypoparathyroidism [ICD-10 Sub-category (who)]
- Pseudohypoparathyroidism [ICD-10 Sub-category]
- Pseudohypoparathyroidism [HPO term]
- Pseudohypoparathyroidism [PASCAL descriptor]
- Pseudohypoparathyroidism (disorder) [SNOMED CT concept]
- pseudohypoparathyroidism [DO Concept]
- pseudohypoparathyroidism [Disease (Nov.)]
- pseudohypoparathyroidism, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Albright Hereditary Osteodystrophy with Multiple Hormone Resistance [NCIt concept]
- Albright's Hereditary Osteodystrophy [NCIt concept]
- Pseudohypoparathyroidism type 1A [ICD-11 More detail]

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