| syndroom van algehele ontwikkelingsachterstand, alopecia, macrocefalie, faciale dysmorfie en structurele hersenanomalie (aandoening) | | syndroom van algehele ontwikkelingsachterstand, alopecia, macrocefalie, faciale dysmorfie en structurele hersenanomalie | | deficiëntie van ornithinedecarboxylase
syndroom van Bachmann-Bupp
syndroom van algemene ontwikkelingsachterstand, kaalheid, macrocefalie, dysmorfie van aangezicht en structurele hersenafwijkingen
| | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | | Ornithine decarboxylase deficiency
Bachmann Bupp syndrome
| | A rare disorder of ornithine metabolism with characteristics of global developmental delay, alopecia, macrocephaly and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism and clinodactyly among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces. |
| | Id | 1222658006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 544488 |
| SNOMED CT to ICD-10 extended map | | Target | E72.4 | | Rule | TRUE | | Advice | ALWAYS E72.4 | 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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