Preferred Label : Lipodystrophy - intellectual deficit - deafness;
ICD-11 definition : Lipodystrophy - intellectual deficit - deafness is characterized by the association
of generalized congenital lipodystrophy, progressive sensorineural deafness in early
childhood, intellectual deficit, and skeletal manifestations characterized by slender,
undermineralized tubular bones with a tendency for fractures in adolescence, delayed
skeletal maturation, and late-onset dense metaphyseal striations.;
Origin ID : 876248189;
Automatic exact mappings (from CISMeF team)
Lipodystrophy - intellectual deficit - deafness is characterized by the association
of generalized congenital lipodystrophy, progressive sensorineural deafness in early
childhood, intellectual deficit, and skeletal manifestations characterized by slender,
undermineralized tubular bones with a tendency for fractures in adolescence, delayed
skeletal maturation, and late-onset dense metaphyseal striations.