| syndroom van dysmorfie, kleine gestalte, doofheid en geslachtsontwikkelingsstoornis (aandoening) | | syndroom van dysmorfie, kleine gestalte, doofheid en geslachtsontwikkelingsstoornis | | syndroom van Ieshima-Koeda-Inagaki
| | Dysmorphism, short stature, deafness, disorder of sex development syndrome | | Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome
| | Syndrome with characteristics of dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism and growth and psychomotor retardation. It has been described in two siblings. The disease is transmitted as an autosomal recessive trait. |
| | Id | 733050004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2282 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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