Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Congenital aplasia of lung	Congenital heart disease	Congenital malformation of thumb	Developmental hereditary disorder	Multiple malformation syndrome with limb defect as major feature
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Lung agenesis with heart defect and thumb anomaly syndrome (disorder)
	Lung agenesis with heart defect and thumb anomaly syndrome
	Mardini Nyhan syndrome
	A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development.
	syndroom van longagenesie, hartdefect en afwijking van digiti I
	syndroom van longagenesie, hartdefect en duimanomalieën syndroom van pulmonale agenesie, hartdefect en anomalieën van duim syndroom van Mardini-Nyhan

Id	721976003
Status	Primitive

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

Associated morphology	Aplasia
Finding site	Lung structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q33.3
Rule	TRUE
Advice	ALWAYS Q33.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q24.9
Rule	TRUE
Advice	ALWAYS Q24.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q74.0
Rule	TRUE
Advice	ALWAYS Q74.0
Correlation	SNOMED CT source code to target map code correlation not specified