Autosomal recessive hereditary disorder	Congenital anomaly of pelvic bones	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature	Short rib dysplasia	Short stature disorder
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Thoracomelic dysplasia (disorder)
	Thoracomelic dysplasia
	Thoracolimb dysplasia Rivera type Rivera Perez Salas syndrome
	An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
	thoracomelische dysplasie
	syndroom van Rivera-Perez-Salas

Id	783003009
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Bone structure of pelvis
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q77.2
Rule	TRUE
Advice	ALWAYS Q77.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified