733088002: Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Preaxial polydactyly, colobomata, 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\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Preaxial polydactyly, colobomata, 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\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498722014	Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498723016	Preaxial polydactyly, colobomata, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498724010	Pfeiffer Mayer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403730011	A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403731010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498722014	Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498723016	Preaxial polydactyly, colobomata, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498724010	Pfeiffer Mayer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499967017	Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403730011	A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403731010	A rare multiple congenital anomalies/dysmorphic syndrome characterised by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
603061000274117	Pfeiffer-Mayer-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426091001000110	Präaxiale Polydaktylie-Kolobom-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
896841000172119	syndrome de Pfeiffer-Mayer	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
913391000172117	syndrome de polydactylie préaxiale-colobome-déficience intellectuelle-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
896841000172119	syndrome de Pfeiffer-Mayer	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
913391000172117	syndrome de polydactylie préaxiale-colobome-déficience intellectuelle-petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
603061000274117	Pfeiffer-Mayer-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426091001000110	Präaxiale Polydaktylie-Kolobom-Intelligenzminderung-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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