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syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus (aandoening)
syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus
syndroom van Stimmler
Stimmler syndrome
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
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.
Id733072002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.4
RuleTRUE
AdviceALWAYS K00.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE14.9
RuleTRUE
AdviceALWAYS E14.9
CorrelationSNOMED CT source code to target map code correlation not specified