Cardiovascular system hereditary disorder	Congenital heart disease	Craniosynostosis syndrome	Developmental delay	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple system malformation syndrome
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Cardiocranial syndrome Pfeiffer type (disorder)
	Cardiocranial syndrome Pfeiffer type
	Craniosynostosis with congenital heart disease and intellectual disability syndrome Pfeiffer Singer Zschiesche syndrome Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
	An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.
	syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking
	syndroom van Pfeiffer-Singer-Zschiesche syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie cardiocraniaalsyndroom Pfeiffer-type

Id	720606005
Status	Primitive

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

Associated morphology	Congenital premature fusion
Finding site	Structure of sagittal suture of skull
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified