pycnodysostosis

Preferred Label : pycnodysostosis;

MeSH definition : Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.;

MeSH synonym : pycnodysostoses; pyknodysostosis; pyknodysostoses;

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

Details

Origin ID

D058631;

UMLS CUI

C0238402;

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)
- Pycnodysostosis [ICD-11 More detail]
- Pyknodysostosis [ACR pathology]
- Pyknodysostosis [ACR pathology]
Currated CISMeF NLP mapping
- Pycnodysostosis [NCIt concept]
- Pycnodysostosis [MedDRA Preferred Term]
- Pycnodysostosis [OMIM Phenotype]
- Pycnodysostosis [ORDO Disease]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- Toulouse Lautrec syndrome [Disease (Nov.)]
- pycnodysostosis [DO Concept]
- pyknodysostosis [SNOMED Notion]
DO Cross reference
- pycnodysostosis [DO Concept]
Has phenotype(s) (HPO)
- Frontal and occipital prominence [HPO term]
- Grooved nails [HPO term]
ORDO relation(s)
- Pycnodysostosis [ORDO Disease]
Record concept(s)
- pycnodysostosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pycnodysostosis [OMIM Phenotype]
- Pycnodysostosis [ORDO Disease]
- Pycnodysostosis [NCIt concept]
- Pycnodysostosis [MedDRA Preferred Term]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- Toulouse Lautrec syndrome [Disease (Nov.)]
- pycnodysostosis [DO Concept]
- pyknodysostosis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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