Autosomal recessive hereditary disorder	Congenital anomaly of face bones	Congenital anomaly of nail	Congenital dilatation of colon	Developmental hereditary disorder	Digestive system hereditary disorder	Genetic disorder of nail	Hereditary disorder of musculoskeletal system	Hereditary disorder of the integument	Hirschsprung's disease	Inherited autonomic nervous system disorder	Multiple system malformation syndrome
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Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
	Hirschsprung disease with nail hypoplasia and dysmorphism
	Al Gazali Donnai Muller syndrome
	A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.
	ziekte van Hirschsprung met nagelhypoplasie en dysmorfie
	syndroom van Al Gazali-Donnai-Muller

Id	721223002
Status	Primitive

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

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

Associated morphology	Hypoplasia
Finding site	Nail unit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Morphologically abnormal structure
Finding site	Bone structure of face
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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified