| 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
| | Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of transmission appears to be autosomal recessive. |
| | 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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