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endocrien-cerebro-osteodysplasiesyndroom (aandoening)
endocrien-cerebro-osteodysplasiesyndroom
ECO-syndroom
Endocrine-cerebro-osteodysplasia syndrome
ECO (endocrine-cerebro-osteodysplasia) syndrome
ECO syndrome
Endocrine cerebroosteodysplasia syndrome
Syndrome with characteristics of various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Six cases from consanguineous parents have been described. Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed. The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase. Transmission is autosomal recessive.
Id723309006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified