syndroom van ichtyose, verstandelijke beperking, dwerggroei en nierfunctiestoornis (aandoening) | | syndroom van ichtyose, verstandelijke beperking, dwerggroei en nierfunctiestoornis | | syndroom van ichtyose, verstandelijke handicap, dwerggroei en nierfunctiestoornis syndroom van ichtyose, mentale retardatie, dwerggroei en nierfunctiestoornis syndroom van Passwell-Goodman-Siprkowski
| | Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome | | Passwell Goodman Siprkowski syndrome
| | Syndrome with characteristics of nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
| Id | 733097003 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q80.9 | Term | Congenitale ichthyose, niet gespecificeerd |
Target | F79.9 | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
Target | E34.3 | Term | Kleine gestalte, niet elders geclassificeerd |
Target | N19 | Term | Niet gespecificeerde nierinsufficiƫntie |
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SNOMED CT to Orphanet simple map | 2278 |
SNOMED CT to ICD-10 extended map | Target | Q80.8 | Rule | TRUE | Advice | ALWAYS Q80.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | E34.3 | Rule | TRUE | Advice | ALWAYS E34.3 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | N19 | Rule | TRUE | Advice | ALWAYS N19 | Correlation | SNOMED CT source code to target map code correlation not specified |
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