Preferred Label : Terminal osseous dysplasia - pigmentary defects;
ICD-11 definition : Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation
of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis,
which appear a few months after birth. In the majority of patients, the bone dysplasia
is limited to the hands and feet but shortening and/or bowing of the bones of the
arms and legs has been reported in severe cases.;
Origin ID : 1298938435;
UMLS CUI : C1846129;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation
of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis,
which appear a few months after birth. In the majority of patients, the bone dysplasia
is limited to the hands and feet but shortening and/or bowing of the bones of the
arms and legs has been reported in severe cases.
