Autosomal recessive hereditary disorder	Congenital anomaly of rib	Congenital dysplasia of spine	Congenital dysplasia of thorax	Developmental hereditary disorder	Disorder of vertebra	Dysostosis	Genetic intellectual disability	Hereditary disorder of musculoskeletal system	Lesion of vertebra	Multiple malformation syndrome with facial defects as major feature
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Cerebro-facio-thoracic dysplasia (disorder)
	Cerebro-facio-thoracic dysplasia
	Pascual Castroviejo syndrome type 1
	Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

Id	720635002
Status	Primitive

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

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

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

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified