Schinzel-Giedion syndrome

Preferred Label : Schinzel-Giedion syndrome;

MeSH synonym : schinzel giedion midface-retraction syndrome; Schinzel-Giedion Midface-Retraction syndrome; schinzel giedion syndrome; Schinzel-Giedion midface retraction syndrome;

Details

Origin ID

C536632;

UMLS CUI

C0265227;

Automatic exact mappings (from CISMeF team)
- Schinzel-Giedion syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Schinzel-Giedion Midface-Retraction Syndrome [NCIt concept]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- Schinzel-giedion midface retraction syndrome [OMIM Phenotype]
- schinzel-giedion syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
Record concept(s)
- Schinzel-Giedion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schinzel-Giedion Midface-Retraction Syndrome [NCIt concept]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- Schinzel-giedion midface retraction syndrome [OMIM Phenotype]
- schinzel-giedion syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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