Preferred Label : Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural
deafness;
ICD-11 definition : ABCD syndrome is the acronym for Albinism, Black lock, Cell migration disorder of
the neurocytes of the gut and sensorineural Deafness. Albinism can be complete (absence
of black lock and retinal pigmentation). Hirschsprung disease is severe, involving
the colon and the small intestine and causing death within a few days after birth.;
ICD-11 synonym : ABCD - [Albinism - black lock - cell migration disorder of the neurocytes of the gut
- sensorineural deafness] syndrome; ABCD syndrome;
Origin ID : 2054894662;
UMLS CUI : C1838099;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
ABCD syndrome is the acronym for Albinism, Black lock, Cell migration disorder of
the neurocytes of the gut and sensorineural Deafness. Albinism can be complete (absence
of black lock and retinal pigmentation). Hirschsprung disease is severe, involving
the colon and the small intestine and causing death within a few days after birth.