Autosomal recessive hereditary disorder	Coloboma of eye	Developmental hereditary disorder	Genetic intellectual disability	Hereditary disorder of the visual system	Multiple malformation syndrome with limb defect as major feature	Radial polydactyly
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Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
	Preaxial polydactyly, colobomata, intellectual disability syndrome
	Pfeiffer Mayer syndrome
	A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.

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

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.2
Term	Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten

SNOMED CT to ICD-10 extended map

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