| syndroom van alopecia, verstandelijke beperking en hypergonadotroop hypogonadisme (aandoening) | | syndroom van alopecia, verstandelijke beperking en hypergonadotroop hypogonadisme | | syndroom van alopecia, verstandelijke handicap en hypergonadotroop hypogonadisme
syndroom van Devriendt-Vandenberghe-Fryns
syndroom van alopecia, mentale retardatie en hypergonadotroop hypogonadisme
| | Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome | | Devriendt Vandenberghe Fryns syndrome
| | This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded. |
| | Id | 720981000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 1014 |
| SNOMED CT to ICD-10 extended map | | Target | Q84.0 | | Rule | TRUE | | Advice | ALWAYS Q84.0 | | 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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | 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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | 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 |
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