Craniometaphyseal dysplasia

Preferred Label : Craniometaphyseal dysplasia;

ICD-11 definition : Craniometaphyseal dysplasia is a rare inherited generalized skeletal disorder characterized by progressive hyperostosis and sclerosis of the craniofacial bones, with abnormal modelling of the metaphyses of the long bones.;

Details

Origin ID

305860050;

Currated CISMeF NLP mapping
- Craniodiaphyseal Dysplasia [NCIt concept]
- Craniometadiaphyseal dysplasia [OMIM Phenotype]
- Craniometadiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia [ORDO Disease]
- Craniometaphyseal dysplasia [PASCAL descriptor]
- Craniometaphyseal dysplasia [OMIM phenotypic series]
- Craniometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Craniometaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- Schwartz-Lelek syndrome [MeSH concept]
- craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia [SNOMED Notion]
- craniometaphyseal dysplasia [Disease (Nov.)]
See also inter- (CISMeF)
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia [PASCAL descriptor]
- Craniodiaphyseal dysplasia [ORDO Disease]
- Craniodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- craniodiaphyseal dysplasia [DO Concept]
- craniodiaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

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