Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia

Preferred Label : Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 211930;

Details

Origin ID

211930;

UMLS CUI

C5848327;

CISMeF manual mappings
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MeSH concept]
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome [ORDO Disease]
- Goodman camptodactyly [MeSH concept]
- camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MeSH Supplementary Concept]
- goodman camptodactyly [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Hammertoe [HPO term]
- Joint contracture of the hand [HPO term]
- Patent ductus arteriosus [HPO term]
- Scoliosis [HPO term]
- Skeletal dysplasia [HPO term]
ORDO concept(s)
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) [SNOMED CT concept]
- Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MeSH concept]
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome [ORDO Disease]
- camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia [MeSH Supplementary Concept]
- goodman camptodactyly [MeSH Supplementary Concept]

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