SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/715462003
http://purl.bioontology.org/ontology/SNOMEDCT/715462003
Preferred Name

Microcephaly with cervical spine fusion anomaly

Definitions
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.
Synonyms
Microcephalus co-occurrent with cervical spine fusion anomaly
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
Type http://www.w3.org/2002/07/owl#Class
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