Goldberg-Shprintzen megacolon syndrome

Preferred Label : Goldberg-Shprintzen megacolon syndrome;

CISMeF acronym : GOSHS;

MeSH synonym : Goldberg-Shprintzen syndrome;

Origin ID

C537279;

UMLS CUI

C1836123;

Automatic exact mappings (from CISMeF team)
- Goldberg-Shprintzen megacolon syndrome [ICD-11 More detail]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
CISMeF manual mappings
- Goldberg Shprintzen megacolon syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-Shprintzen syndrome [DO Concept]
- Goldberg-shprintzen syndrome [OMIM Phenotype]
DO Cross reference
- Goldberg-Shprintzen syndrome [DO Concept]
False automatic mappings
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Bulbous nasal tip [HPO term]
- High-arched, dense eyebrows [HPO term]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
Ne pas confondre avec
- Shprintzen-Goldberg syndrome [ORDO Disease]
ORDO relation(s)
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
Record concept(s)
- Goldberg-Shprintzen megacolon syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Goldberg Shprintzen megacolon syndrome (disorder) [SNOMED CT concept]
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-Shprintzen syndrome [DO Concept]
- Goldberg-shprintzen syndrome [OMIM Phenotype]