| 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
| | RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by 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. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
| | 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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