764455002: Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649909010	Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649910017	CHOPS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3649911018	Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3651508015	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 apnoea 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3651509011	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start