| syndroom van macrocefalie, alopecia, cutis laxa en scoliose (aandoening) | | syndroom van macrocefalie, alopecia, cutis laxa en scoliose | | MACS-syndroom
RIN2-syndroom
| | MACS syndrome | | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome
RIN2 deficiency
MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome
| | A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. |
| | Id | 723367005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
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| SNOMED CT to Orphanet simple map | 217335 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | 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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