Cranioectodermal dysplasia

Preferred Label : Cranioectodermal dysplasia;

ICD-11 definition : Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).;

ICD-11 synonym : Sensenbrenner syndrome;

CISMeF acronym : CED;

Details

Origin ID

1588881145;

Automatic exact mappings (from CISMeF team)
- Camurati-engelmann disease [OMIM Phenotype]
- Convection-Enhanced Delivery [NCIt concept]
- TGFB1 wt Allele [NCIt concept]
- transforming growth factor beta 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Cranioectodermal Dysplasia [NCIt concept]
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia [OMIM phenotypic series]
- Cranioectodermal dysplasia (disorder) [SNOMED CT concept]
- Cranioectodermal dysplasia 1 [OMIM Phenotype]
- cranioectodermal dysplasia [DO Concept]
- cranioectodermal dysplasia [MeSH concept]
- cranioectodermal dysplasia [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Cranioectodermal dysplasia 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients