Pycnodysostosis

Preferred Label : Pycnodysostosis;

Alternative definition : NICHD: An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination.;

Details

Origin ID

C131187;

UMLS CUI

C0238402;

Automatic exact mappings (from CISMeF team)
- Pycnodysostosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pycnodysostosis [OMIM Phenotype]
- Pycnodysostosis [ORDO Disease]
- Pycnodysostosis [MedDRA Preferred Term]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- pycnodysostosis [MeSH Descriptor]
- pycnodysostosis [DO Concept]
- pycnodysostosis [MeSH concept]
- pyknodysostosis [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pycnodysostosis [ORDO Disease]
- Pycnodysostosis [OMIM Phenotype]
- Pycnodysostosis [MedDRA Preferred Term]
- Pyknodysostosis [PASCAL descriptor]
- Pyknodysostosis (disorder) [SNOMED CT concept]
- Toulouse Lautrec syndrome [Disease (Nov.)]
- pycnodysostosis [DO Concept]
- pycnodysostosis [MeSH Descriptor]
- pycnodysostosis [MeSH concept]
- pyknodysostosis [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- CTSK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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