Cranioectodermal Dysplasia

Preferred Label : Cranioectodermal Dysplasia;

NCIt synonyms : Sensenbrenner Syndrome;

NCIt definition : An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by distinctive abnormalities of the face and skull, in association with developmental abnormalities of the structures derived from ectodermal tissues.;

Details

Origin ID

C129305;

UMLS CUI

C4551571;

Currated CISMeF NLP mapping
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia [ICD-11 More detail]
- Cranioectodermal dysplasia [OMIM phenotypic series]
- Cranioectodermal dysplasia (disorder) [SNOMED CT concept]
- cranioectodermal dysplasia [DO Concept]
- cranioectodermal dysplasia [MeSH concept]
- cranioectodermal dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cranioectodermal dysplasia [MedDRA Preferred Term]
- Cranioectodermal dysplasia (disorder) [SNOMED CT concept]
- Sensenbrenner syndrome [MedDRA LLT]
Validated automatic mappings to BTNT
- Cranioectodermal dysplasia 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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