| syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte (aandoening) | | syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte | | syndroom van Mikati-Najjar-Sahli
| | Microcephalus, hypergonadotropic hypogonadism, short stature syndrome | | Mikati Najjar Sahli syndrome
| | Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
| | Id | 733092009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2558 |
| SNOMED CT to ICD-10 extended map | | Target | E22.8 | | Rule | TRUE | | Advice | ALWAYS E22.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q02 | | Rule | TRUE | | Advice | ALWAYS Q02 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E28.3 | | Rule | IFA 248152002 | Female (finding) | | | Advice | IF FEMALE CHOOSE E28.3 | MAP IS CONTEXT DEPENDENT FOR GENDER | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E29.1 | | Rule | IFA 248153007 | Male (finding) | | | Advice | IF MALE CHOOSE E29.1 | MAP IS CONTEXT DEPENDENT FOR GENDER | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | | | Rule | OTHERWISE TRUE | | Advice | MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | | 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 |
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