Hard Skin Syndrome Parana Type

Preferred Label : Hard Skin Syndrome Parana Type;

NCIt synonyms : Parana Hard-Skin Syndrome;

NCIt definition : A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.;

Details

Origin ID

C126559;

UMLS CUI

C1850079;

Currated CISMeF NLP mapping
- Parana hard skin syndrome [ORDO Disease]
- Parana hard skin syndrome (disorder) [SNOMED CT concept]
- Parana hard-skin syndrome [OMIM Phenotype]
- parana hard skin syndrome [MeSH concept]
- parana hard skin syndrome [MeSH Supplementary Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parana hard skin syndrome [ORDO Disease]
- Parana hard skin syndrome (disorder) [SNOMED CT concept]
- Parana hard-skin syndrome [OMIM Phenotype]
- parana hard skin syndrome [MeSH Supplementary Concept]
- parana hard skin syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]

Keyword's position in hierarchy(ies) :

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