| 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
| | An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. 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 | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | 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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