| spectrum van 'DNA replication fork stabilization factor DONSON'-gerelateerde microcefalie, kleine gestalte en afwijkingen van extremiteiten (aandoening) | | spectrum van DONSON-gerelateerde microcefalie, kleine gestalte en afwijkingen van extremiteiten | | spectrum van DONSON-gerelateerde microcefalie, kleine gestalte en afwijkingen van armen en/of benen
spectrum van 'DNA replication fork stabilization factor DONSON'-gerelateerde microcefalie, kleine gestalte en afwijkingen van extremiteiten
| | DONSON-related microcephaly, short stature, limb abnormalities spectrum | | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum
| | A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbor of SON, DONSON (21q22.11), a replisome component that stabilizes forks during genome replication. |
| | Id | 1236845001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 572761 |
| SNOMED CT to ICD-10 extended map | | Target | Q02 | | Rule | TRUE | | Advice | ALWAYS Q02 | 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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