Craniosynostosis

Preferred Label : Craniosynostosis;

NCIt related terms : Craniosynostosis Syndrome;

NCIt definition : A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.;

Alternative definition : CDISC: Premature closure of cranial sutures with fusion of bone, resulting in small maldeveloped skull; used to describe multiple skull bone fusions. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.);

Details

Origin ID

C84655;

UMLS CUI

C0010278;

Automatic exact mappings (from CISMeF team)
- Syndromic craniosynostosis [ORDO Disease]
- craniofacial abnormalities [MedlinePlus Topic]
- msh homeobox 2 [HGNC gene]
Currated CISMeF NLP mapping
- Craniostenosis [HPO term]
- Craniosynostosis [ICD-10 Sub-category]
- Craniosynostosis [ACR pathology]
- Craniosynostosis [PASCAL descriptor]
- Craniosynostosis [ICD-11 Subcategory]
- Craniosynostosis [OMIM phenotypic series]
- Craniosynostosis [ICD-10 Sub-category (who)]
- Craniosynostosis [HPO term]
- Craniosynostosis [MedDRA Preferred Term]
- Craniosynostosis [ORDO Disease]
- Craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- craniosynostoses [MeSH Descriptor]
- craniosynostoses [MeSH concept]
- craniosynostosis [DO Concept]
- craniosynostosis [Disease (Nov.)]
- craniosynostosis [Radlex concept]
- craniosynostosis syndrome [SNOMED Notion]
- premature closure of cranial sutures [MedDRA Preferred Term]
DO Cross reference
- craniosynostosis [DO Concept]
False automatic mappings
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniostenosis [HPO term]
- Craniosynostosis [ORDO Disease]
- Craniosynostosis [MedDRA Preferred Term]
- Craniosynostosis [ICD-10 Sub-category]
- Craniosynostosis [HPO term]
- Craniosynostosis [ACR pathology]
- Craniosynostosis [PASCAL descriptor]
- Craniosynostosis [ICD-10 Sub-category (who)]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Craniosynostosis 1 [OMIM Phenotype]
- Craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- Non-syndromic craniosynostosis [ORDO Disease]
- Premature closure of cranial sutures [MedDRA LLT]
- craniosynostoses [MeSH Descriptor]
- craniosynostoses [MeSH concept]
- craniosynostosis [Radlex concept]
- craniosynostosis [DO Concept]
- craniosynostosis [Disease (Nov.)]
- craniosynostosis syndrome [SNOMED Notion]
- premature closure of cranial sutures [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Craniosynostosis 1 [OMIM Phenotype]
concept_is_in_subset
- CDISC SEND Fetal Pathology Findings Result Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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