Spondylocamptodactyly

Preferred Label : Spondylocamptodactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Camptodactyly with cervical platyspondyly;

Inheritance : Autosomal dominant vs. autosomal recessive with pseudodominance.;

Prefixed ID : 600000;

Details

Origin ID

600000;

UMLS CUI

C1838781;

Currated CISMeF NLP mapping
- Spondylocamptodactyly [MeSH concept]
- Spondylocamptodactyly syndrome [ORDO Disease]
- Spondylocamptodactyly syndrome (disorder) [SNOMED CT concept]
- spondylocamptodactyly [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Camptodactyly of finger [HPO term]
- Cervical platyspondyly [HPO term]
- Contractures of the proximal interphalangeal joints of the fingers [HPO term]
- Flattened cervical vertebral bodies [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Spondylocamptodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocamptodactyly [MeSH concept]
- Spondylocamptodactyly syndrome [ORDO Disease]
- spondylocamptodactyly [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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