| foramen parietale met claviculaire hypoplasie (aandoening) | | foramen parietale met claviculaire hypoplasie | | Parietal foramina with clavicular hypoplasia | | Parietal foramina with cleidocranial dysplasia
| | A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35. |
| | Id | 771338002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q74.0 | | Term | Overige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel |
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| SNOMED CT to Orphanet simple map | 251290 |
| SNOMED CT to ICD-10 extended map | | Target | Q74.0 | | Rule | TRUE | | Advice | ALWAYS Q74.0 | 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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