| syndroom van verstandelijke beperking, grof aangezicht, hartdefecten, obesitas, pulmonale betrokkenheid, kleine gestalte en skeletdysplasie (aandoening) | | syndroom van verstandelijke beperking, grof aangezicht, hartdefecten, obesitas, pulmonale betrokkenheid, kleine gestalte en skeletdysplasie | | CHOPS-syndroom
syndroom van cognitieve beperking, grof aangezicht, hartdefecten, obesitas, pulmonale betrokkenheid, kleine gestalte en skeletdysplasie
| | Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome | | CHOPS syndrome
| | Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. |
| | Id | 764455002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 444077 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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