Preferred Label : Phocomelia, Schinzel type;
ICD-11 definition : Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome,
is characterized by skeletal malformations including intercalary limb deficiencies
(phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent
or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), skull defects
(frequently a defect of the occipital bone with or without meningocele).;
Origin ID : 1732271544;
Currated CISMeF NLP mapping
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome,
is characterized by skeletal malformations including intercalary limb deficiencies
(phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent
or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), skull defects
(frequently a defect of the occipital bone with or without meningocele).
