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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667485017	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399536010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399537018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667484018	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667485017	Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399536010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399537018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422961001000117	Intelligenzminderung-kardiale Anomalien-Kleinwuch-Gelenkinstabilität-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6408331000241117	syndrome de déficience intellectuelle, anomalies cardiaques, petite taille et laxité articulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6408331000241117	syndrome de déficience intellectuelle, anomalies cardiaques, petite taille et laxité articulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422961001000117	Intelligenzminderung-kardiale Anomalien-Kleinwuch-Gelenkinstabilität-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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