| syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme (aandoening) | | syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme | | congenitale spierdystrofie met infantiel cataract en hypogonadisme
| | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome | | This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. |
| | Id | 715429006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 1875 |
| SNOMED CT to ICD-10 extended map | | Target | G71.2 | | Rule | TRUE | | Advice | ALWAYS G71.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H26.0 | | Rule | TRUE | | Advice | ALWAYS H26.0 | | 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 | | 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 |
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