Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Congenital micrognathism	Congenital sensorineural hearing loss	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Metabolic bone disease	Multiple malformation syndrome with facial defects as major feature	Premature aging syndrome
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Mandibular hypoplasia, deafness, progeroid syndrome (disorder)
	Mandibular hypoplasia, deafness, progeroid syndrome
	Mandibular hypoplasia, hearing loss, progeroid syndrome MDP (mandibular hypoplasia, deafness, progeroid) syndrome
	A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13.
	syndroom van mandibulaire hypoplasie, doofheid en progeroïde kenmerken
	MDP-syndroom

Id	773406003
Status	Primitive

Finding site	Skin structure
Occurrence	Congenital

Associated morphology	Hypoplasia
Finding site	Bone structure of mandible
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of auditory system
Occurrence	Congenital

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E34.8
Rule	TRUE
Advice	ALWAYS E34.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified