Goldberg-Shprintzen megacolon syndrome

Preferred Label : Goldberg-Shprintzen megacolon syndrome;

ICD-11 definition : Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.;

Détails

Origin ID

1750921468;

Automatic exact mappings (from CISMeF team)
- Goldberg Shprintzen megacolon syndrome (disorder) [SNOMED CT concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-Shprintzen megacolon syndrome [MeSH concept]
- Goldberg-Shprintzen syndrome [DO Concept]
- Goldberg-shprintzen syndrome [OMIM Phenotype]

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