Autosomal recessive hereditary disorder	Cleft palate	Congenital anomaly of bone and joint	Congenital cataract	Craniosynostosis syndrome	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Intellectual disability	Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
	Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
	Spondyloepiphyseal dysplasia Nishimura type
	Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood.
	syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke beperking
	syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke handicap syndroom van spondylo-epifysaire dysplasie, craniosynostose, gespleten gehemelte, cataract en mentale retardatie spondylo-epifysaire dysplasie type Nishimura

Id	718766002
Status	Primitive

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

Associated morphology	Congenital premature fusion
Finding site	Joint structure of suture of skull
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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