Autosomal recessive hereditary disorder	Developmental hereditary disorder	Disorder of stature	Intellectual disability	Multiple malformation syndrome with early overgrowth	Multiple malformation syndrome with facial defects as major feature
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Tall stature, intellectual disability, renal anomalies syndrome (disorder)
	Tall stature, intellectual disability, renal anomalies syndrome
	Thauvin Robinet Faivre syndrome
	A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive.
	syndroom van lange gestalte, verstandelijke beperking en nierafwijking
	syndroom van Thauvin-Robinet-Faivre syndroom van lange gestalte, mentale retardatie en nierafwijking Thauvin-Robinet-Faivre-syndroom syndroom van lange gestalte, verstandelijke handicap en renale anomalie

Id	1169359006
Status	Primitive

Has interpretation	Above reference range
Interprets	Body height measure

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

ICD-10 complex map reference set

Target	Q87.3
Rule	TRUE
Advice	ALWAYS Q87.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified