viljoen kallis voges syndrome

Preferred Label : viljoen kallis voges syndrome;

MeSH note : Microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and mental retardation;

Details

Origin ID

C536349;

UMLS CUI

C2931177;

CISMeF manual mappings
- Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Microcephaly-brachydactyly-kyphoscoliosis syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
Record concept(s)
- Viljoen Kallis Voges syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) [SNOMED CT concept]
- Microcephaly-brachydactyly-kyphoscoliosis syndrome [ORDO Disease]

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