Chromosome 2q35 duplication syndrome

Preferred Label : Chromosome 2q35 duplication syndrome;

CISMeF acronym : SDTY1; SD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly, type I; SDTY1; SD1; Zygodactyly 2;

Included titles and symbols : Craniosynostosis, philadelphia type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of 59kb on chromosome 2q35;

Prefixed ID : #185900;

Details

Origin ID

185900;

UMLS CUI

C1861380;

Automatic exact mappings (from CISMeF team)
- Craniosynostosis Philadelphia type (disorder) [SNOMED CT concept]
- Craniosynostosis, Philadelphia type [ORDO Disease]
- Craniosynostosis, Philadelphia type [ICD-11 More detail]
- Syndactyly type 1 [ICD-11 More detail]
- craniosynostosis, philadelphia type [MeSH Supplementary Concept]
- craniosynostosis, philadelphia type [MeSH concept]
- syndactyly [DO Concept]
- syndactyly type 1 [DO Concept]
Currated CISMeF NLP mapping
- Syndactyly type 1 [ORDO Disease]
- Syndactyly type 1 (disorder) [SNOMED CT concept]
- syndactyly, type I [MeSH concept]
- syndactyly, type I [MeSH Supplementary Concept]
DO Cross reference
- syndactyly type 1 [DO Concept]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 3-4 finger syndactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous syndactyly [HPO term]
- Distal symphalangism of hands [HPO term]
- Sagittal craniosynostosis [HPO term]
ORDO concept(s)
- Craniosynostosis, Philadelphia type [ORDO Disease]
- Syndactyly type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndactyly type 1 [ORDO Disease]
- Syndactyly type 1 (disorder) [SNOMED CT concept]
- Zygodactyly [MedDRA LLT]
- syndactyly, type I [MeSH Supplementary Concept]
- syndactyly, type I [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients