| 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 | | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. 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 | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | 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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