Congenital anomaly of central nervous system	Developmental hereditary disorder	Ectodermal dysplasia	Hereditary disorder of nervous system	Hereditary disorder of the integument	Intellectual disability	Multiple system malformation syndrome	X-linked recessive hereditary disease
\|	\|	\|	\|	\|	\|	\|	\|

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
	A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998.
	syndroom van ectodermale dysplasie, verstandelijke beperking en malformatie van centraal zenuwstelsel
	syndroom van ectodermale dysplasie, mentale retardatie en malformatie van centraal zenuwstelsel syndroom van ectodermale dysplasie, verstandelijke handicap en malformatie van centraal zenuwstelsel

Id	734017008
Status	Primitive

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

Associated morphology	Morphologically abnormal structure
Finding site	Structure of central nervous system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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