Amelogenesis imperfecta	Autosomal recessive hereditary disorder	Congenital microcephaly	Diabetes mellitus	Disorder of amino acid and organic acid metabolism	Enamel hypoplasia	Hereditary disorder of endocrine system	Hereditary metabolic disease	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
	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.
	syndroom van alaninurie, microcefalie, dwerggroei, hypoplasie van tandglazuur en diabetes mellitus
	syndroom van Stimmler

Id	733072002
Status	Primitive

Finding site	Structure of endocrine system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Enamel structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Height / growth measure

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E34.3
Rule	TRUE
Advice	ALWAYS E34.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	K00.4
Rule	TRUE
Advice	ALWAYS K00.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E14.9
Rule	TRUE
Advice	ALWAYS E14.9
Correlation	SNOMED CT source code to target map code correlation not specified