Autosomal recessive hereditary disorder	Congenital anomaly of spinal cord	Congenital dysplasia	Developmental hereditary disorder	Hereditary disorder of nervous system	Multiple system malformation syndrome	Neural tube defect	Sacral agenesis
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Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)
	Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
	A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27.
	syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda
	syndroom van sacrale agenesie, abnormale botontwikkeling van wervellichamen en persisterende chorda dorsalis

Id	774150004
Status	Primitive

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

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

Associated morphology	Agenesis
Finding site	Entire sacral vertebral column region
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Structure of sacral vertebral column region
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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