| syndroom van malformatie van hersenen, afwijking van bewegingsapparaat, faciale dysmorfie en verstandelijke beperking (aandoening) | | syndroom van malformatie van hersenen, afwijking van bewegingsapparaat, faciale dysmorfie en verstandelijke beperking | | syndroom van malformatie van hersenen, afwijking van musculoskeletaal systeem, faciale dysmorfie en verstandelijke handicap
syndroom van malformatie van hersenen, afwijking van tractus locomotorius, faciale dysmorfie en mentale retardatie
syndroom van malformatie van hersenen, afwijking van musculoskeletaal stelsel, faciale dysmorfie en mentale retardatie
| | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | | ZTTK syndrome
Zhu Tokita Takenouchi Kim syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres. Musculoskeletal abnormalities include hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity. Ocular involvement includes strabismus, hypermetropia and cortical visual impairment. Hypotonia may also be associated. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. The disorder is due to a heterozygous de novo SON mutation (21q22.11), which encodes for a protein required for proper RNA splicing. Whilst the disease is autosomal dominant, all reported cases have occurred sporadically. |
| | Id | 1169355000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 500150 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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