| Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) | | L1 syndrome | | CRASH syndrome
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
| | A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner. | | syndroom van hypoplasie van corpus callosum, verstandelijke beperking, geadduceerde digiti I, spasticiteit en hydrocefalie | | L1-syndroom
L1CAM-syndroom
syndroom van hypoplasie van corpus callosum, mentale retardatie, geadduceerde duimen, 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
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| | Id | 716996008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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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