Autosomal recessive hereditary disorder	Coloboma of eye	Developmental hereditary disorder	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with limb defect as major feature	Radial polydactyly
\|	\|	\|	\|	\|	\|	\|

Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
	Preaxial polydactyly, colobomata, intellectual disability syndrome
	Pfeiffer Mayer syndrome
	Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive.
	syndroom van preaxiale polydactylie, coloboom en verstandelijke beperking
	syndroom van preaxiale polydactylie, coloboom en mentale retardatie syndroom van Pfeiffer-Mayer syndroom van preaxiale polydactylie, coloboom en verstandelijke handicap

Id	733088002
Status	Primitive

Associated morphology	Supernumerary structure
Finding site	Thumb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Developmental failure of fusion
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified