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Mondo Disease Ontology
| Preferred Name | hand-Schuller-Christian disease | |
| Synonyms |
hand-Schuller-Christian disease multifocal eosinophilic granuloma hand-SChüller-Christian disease chronic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis multifocal Unisystem Langerhans cell histiocytosis |
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| Definitions |
A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'https://github.com/monarch-initiative/mondo/issues/6754' (MONDO:0005087) ontology branch (https://orcid.org/0000-0001-9310-0163) |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0020519 |
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| comment |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'https://github.com/monarch-initiative/mondo/issues/6754' (MONDO:0005087) ontology branch (https://orcid.org/0000-0001-9310-0163)
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| database_cross_reference |
ICDO:9753/1 NCIT:C6920 ICD9:277.89 GARD:6567 MEDGEN:1804593 SCTID:39795003 Orphanet:99873 UMLS:C5574737
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| definition |
A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.
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| has_exact_synonym |
hand-Schuller-Christian disease multifocal eosinophilic granuloma hand-SChüller-Christian disease chronic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis multifocal Unisystem Langerhans cell histiocytosis
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| IAO_0000233 | ||
| id |
MONDO:0020519
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| in_subset | ||
| label |
hand-Schuller-Christian disease
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| notation |
MONDO:0020519
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| prefLabel |
hand-Schuller-Christian disease
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C6920 http://identifiers.org/medgen/1804593 |
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| treeView | ||
| subClassOf |
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