| syndroom van lipodystrofie, verstandelijke beperking en doofheid (aandoening) | | syndroom van lipodystrofie, verstandelijke beperking en doofheid | | syndroom van lipodystrofie, verstandelijke handicap en doofheid
syndroom van Rajab-Spranger
syndroom van lipodystrofie, mentale retardatie en doofheid
| | Lipodystrophy, intellectual disability, deafness syndrome | | Rajab Spranger syndrome
| | An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
| | Id | 721973006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.8 | | Term | Overige gespecificeerde osteochondrodysplasieën |
| Target | E88.1 | | Term | Lipodystrofie, niet elders geclassificeerd |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 50811 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.8 | | Rule | TRUE | | Advice | ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E88.1 | | Rule | TRUE | | Advice | ALWAYS E88.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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