Craniodiaphyseal Dysplasia

Preferred Label : Craniodiaphyseal Dysplasia;

NCIt related terms : Lionitis; CDD;

CISMeF acronym : CDD;

Alternative definition : NICHD: An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood.;

Details

Origin ID

C131429;

UMLS CUI

C0410539;

Automatic exact mappings (from CISMeF team)
- Aplasia of diaphragm (disorder) [SNOMED CT concept]
- CDKL5-deficiency disorder [ORDO Disease]
- Craniodiaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
Currated CISMeF NLP mapping
- Craniodiaphyseal dysplasia [PASCAL descriptor]
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia [ICD-11 More detail]
- Craniodiaphyseal dysplasia [ORDO Disease]
- Craniodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometadiaphyseal dysplasia [OMIM Phenotype]
- Craniometadiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia [ORDO Disease]
- Craniometaphyseal dysplasia [PASCAL descriptor]
- Craniometaphyseal dysplasia [ICD-11 More detail]
- Craniometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Schwartz-Lelek syndrome [MeSH concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH concept]
- craniodiaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia [SNOMED Notion]
- craniometaphyseal dysplasia [Disease (Nov.)]
- craniometaphyseal dysplasia [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniodiaphyseal dysplasia [ORDO Disease]
- Craniodiaphyseal dysplasia [PASCAL descriptor]
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- craniodiaphyseal dysplasia [DO Concept]
- craniodiaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- SOST Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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