Autosomal recessive hereditary disorder	Congenital anomaly of central nervous system	Developmental hereditary disorder	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with limb defect as major feature	Syndactyly
\|	\|	\|	\|	\|	\|	\|

Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
	syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie
	syndroom van FBLN1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie

Id	774070008
Status	Primitive

Associated morphology	Congenital abnormal fusion
Finding site	Digit 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

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