Developmental hereditary disorder	Genetic intellectual disability	Hereditary disorder of immune system	Hereditary disorder of musculoskeletal system	Immuno-osseous dysplasia	Multiple malformation syndrome with facial defects as major feature
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Roifman syndrome (disorder)
	Roifman syndrome
	Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome
	A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.

Id	773404000
Status	Primitive

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

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

Occurrence	Congenital
Pathological process	Abnormal immune process

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

Has interpretation	Below reference range
Interprets	Body height

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.7
Term	Spondylo-epifysaire dysplasie

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified