Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | | Congenital cataract with hypertrichosis and intellectual disability syndrome | | CAHMR (cataract, hypertrichosis, mental retardation) syndrome CAHMR syndrome
| | This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. | | syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking | | CAHMR-syndroom syndroom van congenitaal cataract, hypertrichose en verstandelijke handicap syndroom van congenitaal cataract, hypertrichose en mentale retardatie
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| Id | 722379001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q12.0 | Rule | TRUE | Advice | ALWAYS Q12.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q84.2 | Rule | TRUE | Advice | ALWAYS Q84.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | F79.9 | Rule | TRUE | Advice | ALWAYS F79.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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