Dyssegmental dysplasia, rolland-desbuquois type

Preferred Label : Dyssegmental dysplasia, rolland-desbuquois type;

Symbol : DDRD;

CISMeF acronym : DDRD;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Dyssegmental dwarfism, rolland-desbuquois type; Anisospondylic camptomicromelic dwarfism, rolland-desbuquois type;

Inheritance : Autosomal recessive;

Prefixed ID : %224400;

Details

Origin ID

224400;

UMLS CUI

C0432209;

Currated CISMeF NLP mapping
- Dyssegmental dysplasia, Rolland-Desbuquois type [ICD-11 More detail]
- Dyssegmental dysplasia, Rolland-Desbuquois type [MeSH concept]
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
- Rolland-Debuqois syndrome (disorder) [SNOMED CT concept]
- dyssegmental dysplasia, Rolland-Desbuquois type [MeSH Supplementary Concept]
- rolland-debuqois syndrome [SNOMED Notion]
False automatic mappings
- DNA Damage Response Deficiency [NCIt concept]
HPO term(s)
- Adducted thumb [HPO term]
- Advanced ossification of carpal bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Broad long bones [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Ectopia lentis [HPO term]
- Encephalocele [HPO term]
- Equinovarus deformity [HPO term]
- Flat face [HPO term]
- Glaucoma [HPO term]
- Hirsutism [HPO term]
- Hydrocephalus [HPO term]
- Joint contracture of the hand [HPO term]
- Lens dislocation [HPO term]
- Lens luxation [HPO term]
- Limitation of joint mobility [HPO term]
- Malar flattening [HPO term]
- Metaphyseal widening [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow greater sciatic notch [HPO term]
- Neonatal short-limb short stature [HPO term]
- Round face [HPO term]
- Severe short stature [HPO term]
- Shallow orbits [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short, broad, bowed long bones [HPO term]
- Short, flared ribs [HPO term]
- short, broad tubular bones [HPO term]
ORDO concept(s)
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
- Dyssegmental dysplasia, Rolland-Desbuquois type [MeSH concept]
- Dyssegmental dysplasia, Rolland-Desbuquois type [ICD-11 More detail]
- Rolland-Debuqois syndrome (disorder) [SNOMED CT concept]
- dyssegmental dysplasia, Rolland-Desbuquois type [MeSH Supplementary Concept]
- rolland-debuqois syndrome [SNOMED Notion]

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