| syndroom van neurologische ontwikkelingsachterstand, verstandelijke beperking, ataxie en moeite met eten (aandoening) | | syndroom van neurologische ontwikkelingsachterstand, verstandelijke beperking, ataxie en moeite met eten | | syndroom van neurobiologische ontwikkelingsachterstand, verstandelijke handicap, ataxie en moeite met eten
DHX30-gerelateerde neurobiologische ontwikkelingsstoornis
syndroom van neurologische ontwikkelingsachterstand, mentale retardatie, ataxie en moeite met eten
DHX30-gerelateerde neurologische ontwikkelingsstoornis
| | Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome | | DHX30-related neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome
DHX30-related neurodevelopmental disorder
| | A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterized by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioral abnormalities (including autistic features, aggressive behavior, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. |
| | Id | 1363573005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G11.8 | | Rule | TRUE | | Advice | ALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
