Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
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. | Is a | True | Infantile cataract (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) |
This concept is not in any reference sets