JSON

craniosynostosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0015469

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. [ Orphanet:1531 ]

Synonyms: premature closure of cranial sutures craniosynostosis syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1531 (MONDO:equivalentTo)
  • MedDRA:10049889 (Orphanet:1531/e)
  • OMIMPS:123100 (https://orcid.org/0000-0002-6601-2165)
  • ICD10CM:Q75.0 (Orphanet:1531/specific)
  • icd11.foundation:458033798 (Orphanet:1531)
  • MEDGEN:1163 (MONDO:equivalentTo)
  • DOID:2340 (MONDO:equivalentTo)
  • NANDO:2100227 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C84655 (MONDO:equivalentTo)
  • MESH:D003398 (Orphanet:1531/e)
  • MedDRA:10048907 (Orphanet:1531/e)
  • GARD:6209 (MONDO:GARD)
  • UMLS:C0010278 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_musculoskeletal_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, ordo_group_of_disorders

abbreviation
CSO [ GARD:0006209 ]

closeMatch

http://identifiers.org/meddra/10048907

http://identifiers.org/meddra/10049889

exactMatch

http://identifiers.org/mesh/D003398

http://purl.bioontology.org/ontology/ICD10CM/Q75.0

http://identifiers.org/medgen/1163

https://omim.org/phenotypicSeries/PS123100

http://purl.obolibrary.org/obo/DOID_2340

http://purl.obolibrary.org/obo/NCIT_C84655

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/458033798

http://linkedlifedata.com/resource/umls/id/C0010278

http://www.orpha.net/ORDO/Orphanet_1531

id

MONDO:0015469

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

https://github.com/monarch-initiative/mondo/issues/6877