| syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde digiti I, spasticiteit en hydrocefalie (aandoening) | | syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde digiti I, spasticiteit en hydrocefalie | | syndroom van hypoplasie van corpus callosum, verstandelijke handicap, geadduceerde duimen, spasticiteit en hydrocefalie
syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde duimen, spasticiteit en hydrocefalie
CRASH-syndroom
L1-syndroom
L1CAM-syndroom
syndroom van hypoplasie van corpus callosum, mentale retardatie, geadduceerde duimen, spasticiteit en hydrocefalie
| | L1 syndrome | | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome
CRASH syndrome
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
| | A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
| | Id | 716996008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.8 | | Term | Overige gespecificeerde congenitale misvormingen van hersenen |
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| SNOMED CT to Orphanet simple map | 275543 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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