| syndroom van verstandelijke beperking, ontwikkelingsachterstand en contracturen (aandoening) | | syndroom van verstandelijke beperking, ontwikkelingsachterstand en contracturen | | syndroom van mentale retardatie, ontwikkelingsachterstand en contracturen
syndroom van verstandelijke handicap, ontwikkelingsachterstand en contracturen
syndroom van Wieacker-Wolff
| | Intellectual disability, developmental delay, contracture syndrome | | Foot contracture, muscle atrophy, oculomotor apraxia syndrome
Wieacker Wolff syndrome
| | A severe X-linked recessive neurodevelopmental disorder with the association of arthrogryposis multiplex congenita and intellectual disability. The syndrome has been reported in 5 families to date, with fewer than 30 affected individuals described. Affected patients are male, while carrier females are often asymptomatic. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial and skeletal abnormalities have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus). Caused by mutations in the ZC4H2 gene (Xq11.1) that is presumed to play a role in neuronal function during fetal growth. |
| | Id | 722456001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q74.3 | | Term | Arthrogryposis multiplex congenita |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
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| SNOMED CT to Orphanet simple map | 3454 |
| SNOMED CT to ICD-10 extended map | | Target | Q74.3 | | Rule | TRUE | | Advice | ALWAYS Q74.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | 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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