| autosomaal recessief syndroom van distale osteolyse (aandoening) | | autosomaal recessief syndroom van distale osteolyse | | syndroom van distale osteolyse, kleine gestalte en verstandelijke beperking
syndroom van Petit-Fryns
syndroom van distale osteolyse, kleine gestalte en verstandelijke handicap
syndroom van distale osteolyse, kleine gestalte en mentale retardatie
| | Autosomal recessive distal osteolysis syndrome | | Petit Fryns syndrome
Distal osteolysis, short stature and intellectual disability
| | Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. |
| | Id | 715487005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.5 | | Term | Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen |
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| SNOMED CT to Orphanet simple map | 2776 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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