| syndroom van mandibulaire hypoplasie, doofheid en progeroïde kenmerken (aandoening) | | syndroom van mandibulaire hypoplasie, doofheid en progeroïde kenmerken | | MDP-syndroom
| | 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. |
| | Id | 773406003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E34.8 | | Term | Overige gespecificeerde endocriene aandoeningen |
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| SNOMED CT to Orphanet simple map | 363649 |
| SNOMED CT to ICD-10 extended map | | 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 |
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