| neonataal optredend syndroom van cytopenie, auto-inflammatie, exantheem en episoden van hemofagocytaire lymfohistiocytose (aandoening) | | neonataal optredend syndroom van cytopenie, auto-inflammatie, exantheem en episoden van hemofagocytaire lymfohistiocytose | | syndroom van cytopenie, auto-inflammatie, exantheem en episoden van hemofagocytaire lymfohistiocytose bij pasgeborene
syndroom van cytopenie, auto-inflammatie, exantheem en episoden van HLH beginnend op neonatale leeftijd
| | NOCARH syndrome | | Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome
| | A rare unclassified autoinflammatory syndrome characterized by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and hemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
| | Id | 1360083000 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | D76.1 | | Rule | TRUE | | Advice | ALWAYS D76.1 | 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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