Brachydactyly	Congenital dilatation of colon	Developmental hereditary disorder	Digestive system hereditary disorder	Hirschsprung's disease	Inherited autonomic nervous system disorder	Multiple malformation syndrome with limb defect as major feature
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Hirschsprung disease with type D brachydactyly syndrome (disorder)
	Hirschsprung disease with type D brachydactyly syndrome
	This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.
	syndroom van ziekte van Hirschsprung en brachydactylie type D

Id	721222007
Status	Primitive

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

Associated morphology	Hypertrophy
Finding site	Colon structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Abnormally short growth
Finding site	Entire digit
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dilatation
Finding site	Colon structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of peripheral part of autonomic nervous system
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q43.1
Rule	TRUE
Advice	ALWAYS Q43.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q71.8
Rule	TRUE
Advice	ALWAYS Q71.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q72.8
Rule	TRUE
Advice	ALWAYS Q72.8
Correlation	SNOMED CT source code to target map code correlation not specified