| syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, perceptief gehoorverlies en dysmorfie (aandoening) | | syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, perceptief gehoorverlies en dysmorfie | | syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, sensorineurale doofheid en dysmorfie
| | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome | | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome
| | A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
| | Id | 773665006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 293967 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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