SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/733072002
http://purl.bioontology.org/ontology/SNOMEDCT/733072002
Preferred Name

Stimmler syndrome

Definitions
Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.
Synonyms
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
Type http://www.w3.org/2002/07/owl#Class
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