Autosomal recessive hereditary disorder	Brachydactyly	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature	Spondyloepimetaphyseal disorder
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Cono-spondylar dysplasia (disorder)
	Cono-spondylar dysplasia
	Short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome
	A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
	cono-spondylar dysplasia
	syndroom van kleine gestalte, kyfose, hypoplasie van ala ossis ilii, kegelvormige epifyse en faciale dysmorfie cono-spondylaire dysplasie

Id	766874001
Status	Primitive

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

Associated morphology	Abnormally short growth
Finding site	Digit 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