Type III Acrocephalosyndactyly

Preferred Label : Type III Acrocephalosyndactyly;

NCIt synonyms : Saethre Chotzen Syndrome;

NCIt related terms : Acrocephalosyndactyly Type III; Saethre-Chotzen Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.;

Details

Origin ID

C75034;

UMLS CUI

C0175699;

Automatic exact mappings (from CISMeF team)
- acrocephalosyndactylia [MeSH Descriptor]
- twist family bHLH transcription factor 1 [ORDO Gene]
- twist family bHLH transcription factor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Saethre Chotzen syndrome [Disease (Nov.)]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome [ICD-11 More detail]
- Saethre-Chotzen syndrome [MeSH concept]
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Saethre-chotzen syndrome [OMIM Phenotype]
- saethre-chotzen syndrome [SNOMED Notion]
DO Cross reference
- Saethre-Chotzen syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Saethre Chotzen syndrome [Disease (Nov.)]
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome [MeSH concept]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Saethre-chotzen syndrome [OMIM Phenotype]
- saethre-chotzen syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- acrocephalosyndactylia [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TWIST1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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