Autosomal recessive hereditary disorder	Congenital anomaly of anus	Congenital anomaly of digit	Congenital anomaly of skeletal bone	Congenital neurological disorder	Developmental hereditary disorder	Digestive system hereditary disorder	Epilepsy	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with limb defect as major feature
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Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)
	Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
	This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14.
	syndroom van ernstige verstandelijke beperking, epilepsie, malformatie van anus, hypoplasie van distale falanx
	syndroom van ernstige verstandelijke handicap, epilepsie, malformatie van anus, hypoplasie van distale falanx syndroom van ernstige mentale retardatie, epilepsie, malformatie van anus, hypoplasie van distale falanx

Id	723676007
Status	Primitive

Finding site

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

Associated morphology	Hypoplasia
Finding site	Entire distal phalanx
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