1186729007: Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Genetic disease\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667484018	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4667485017	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4667486016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intrauterine and postnatal growth restriction, global developmental delay, intellectual disability and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination and cerebral atrophy.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

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Problem/Diagnosis reference set

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