Autosomal recessive hereditary disorder	Congenital microcephaly	Congenital neurological disorder	Developmental hereditary disorder	Epileptic encephalopathy	Global developmental delay	Hereditary disorder of endocrine system	Hereditary disorder of nervous system	Hereditary metabolic disease	Permanent neonatal diabetes mellitus
\|	\|	\|	\|	\|	\|	\|	\|	\|	\|

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)
	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
	A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21.
	syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes

Id	782825008
Status	Primitive

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

Finding site	Structure of endocrine system
Occurrence	Infancy

Finding site	Cerebrum
Occurrence	Infancy

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified