| syndroom van autosomaal dominante verstandelijke beperking, craniofaciale dysmorfie, macrocefalie en hypotonie door H1.4-mutatie (aandoening) | | syndroom van autosomaal dominante verstandelijke beperking, craniofaciale dysmorfie, macrocefalie en hypotonie door H1.4-mutatie | | H1.4-gerelateerde neurologische ontwikkelingsstoornis
syndroom van Rahman
Rahman-syndroom
| | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation | | H1-4-related neurodevelopmental disorder
Rahman syndrome
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occurring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. |
| | Id | 1304277005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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