McKusick kaufman syndrome

Preferred Label : McKusick kaufman syndrome;

MeSH synonym : hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; kaufman McKusick syndrome; hydrometrocolpos syndrome; Kaufman-Mckusick syndrome; Mckusick-Kaufman syndrome;

Détails

Origin ID

C538159;

UMLS CUI

C0948368;

Automatic exact mappings (from CISMeF team)
- MKKS centrosomal shuttling protein [ORDO Gene]
- MKKS centrosomal shuttling protein [HGNC gene]
Currated CISMeF NLP mapping
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) [SNOMED CT concept]
- Kaufman-McKusick syndrome [MedDRA Preferred Term]
- McKusick Kaufman syndrome [Disease (Nov.)]
- McKusick Kaufman syndrome [ICD-11 More detail]
- McKusick-Kaufman syndrome [DO Concept]
- McKusick-Kaufman syndrome [ORDO Disease]
- Mckusick-kaufman syndrome [OMIM Phenotype]
DO Cross reference
- McKusick-Kaufman syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- hydrocolpos [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
- uterine diseases [MeSH Descriptor]
ORDO relation(s)
- McKusick-Kaufman syndrome [ORDO Disease]
Record concept(s)
- McKusick Kaufman syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) [SNOMED CT concept]
- Kaufman-McKusick syndrome [MedDRA Preferred Term]
- McKusick Kaufman syndrome [Disease (Nov.)]
- McKusick Kaufman syndrome [ICD-11 More detail]
- McKusick-Kaufman syndrome [ORDO Disease]
- McKusick-Kaufman syndrome [DO Concept]
- Mckusick-kaufman syndrome [OMIM Phenotype]

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