| 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
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux. |
| | 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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