johnson munson syndrome

Preferred Label : johnson munson syndrome;

MeSH synonym : aphalangy with hemivertebrae; aphalangy of the hands and feet, hemivertebrae, and visceral malformations;

Details

Origin ID

C535881;

UMLS CUI

C1859754;

Currated CISMeF NLP mapping
- Aphalangy with hemivertebrae [OMIM Phenotype]
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder) [SNOMED CT concept]
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- ectromelia [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- spine [MeSH Descriptor]
ORDO relation(s)
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]
Record concept(s)
- Johnson Munson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aphalangy with hemivertebrae [OMIM Phenotype]
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder) [SNOMED CT concept]
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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