Autosomal dominant hereditary disorder	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature	Short stature disorder	Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)
	Spondyloepiphyseal dysplasia Cantu type
	Tattoo dysplasia Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
	An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.
	syndroom van spondylo-epifysaire dysplasie en brachydactylie met spraakstoornis
	Tattoo-dysplasie 'fantasy Island'-syndroom spondylo-epifysaire dysplasie type Cantu

Id	718765003
Status	Primitive

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

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

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

Interprets

Height / growth measure

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