| groeiachterstand door insulineachtige groeifactor type 1-deficiëntie (aandoening) | | groeiachterstand door insulineachtige groeifactor type 1-deficiëntie | | IGF-1-deficiëntie
syndroom van groeiachterstand, doofheid en mentale retardatie
groeiachterstand door somatomedine C-deficiëntie
| | Growth delay due to insulin-like growth factor type 1 deficiency | | IGF-1 (insulin-like growth factor 1) deficiency
Growth delay, deafness, intellectual disability syndrome
Primary insulin-like growth factor deficiency
| | Syndrome with the association of intrauterine and postnatal growth retardation, sensorineural deafness and intellectual deficit. The syndrome is extremely rare and only four cases have been reported in the literature so far. Additional clinical features include microcephaly, adiposity, and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. Caused by homozygous mutations in the insulin-like growth factor 1 gene (12q22-q24.1). Transmitted as an autosomal recessive trait. |
| | Id | 724385009 | | Status | Primitive |
| DHD Diagnosethesaurus-referentieset |
| referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus | | Target | E23.0 | | Term | Hypopituïtarisme |
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| referentieset met complexe 'mapping' naar ICD-10 | | Target | E23.0 | | Rule | TRUE | | Advice | ALWAYS E23.0 | 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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