763665007: Craniodigital syndrome and intellectual disability 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\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Craniodigital syndrome and intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Craniodigital syndrome and intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Craniodigital syndrome and intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniodigital syndrome and intellectual disability syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Craniodigital syndrome and intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniodigital syndrome and intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643215011	Scott craniodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643216012	Scott Bryant Graham syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643217015	Craniodigital syndrome and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643218013	Craniodigital syndrome and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404131014	Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404132019	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643215011	Scott craniodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643216012	Scott Bryant Graham syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643217015	Craniodigital syndrome and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643218013	Craniodigital syndrome and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643219017	Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404131014	Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404132019	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451671001000113	Kraniodigitales Syndrom mit Intelligenzminderung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905931000241114	syndrome craniodigital et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905941000241116	syndrome de Scott-Bryant-Graham	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905951000241118	syndrome craniodigital de Scott	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905931000241114	syndrome craniodigital et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905941000241116	syndrome de Scott-Bryant-Graham	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5905951000241118	syndrome craniodigital de Scott	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451671001000113	Kraniodigitales Syndrom mit Intelligenzminderung	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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