| syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking (aandoening) | | syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking | | syndroom van congenitaal cataract, hypertrichose en verstandelijke handicap
syndroom van congenitaal cataract, hypertrichose en mentale retardatie
CAHMR-syndroom
| | Congenital cataract with hypertrichosis and intellectual disability syndrome | | CAHMR (cataract, hypertrichosis, mental retardation) syndrome
CAHMR syndrome
| | Cataract-hypertrichosis-intellectual disability 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. |
| | Id | 722379001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q12.0 | | Term | Congenitaal cataract |
| Target | Q84.2 | | Term | Overige congenitale misvormingen van haar |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 1375 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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