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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\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 of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\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\Anomaly of eye\Lesion 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\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\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\Impaired cognition\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\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 body system\Hereditary disorder by system\Hereditary disorder of the visual system\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\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\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\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 extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\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\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\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\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental 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\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental 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\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome

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

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 SNOMED CT core module
3498723016 Preaxial polydactyly, colobomata, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498724010 Pfeiffer Mayer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Congenital ocular coloboma	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Polydactyly	false	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Existential restriction modifier	3
Preaxial polydactyly, colobomata, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Preaxial polydactyly, colobomata, intellectual disability syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	3
Preaxial polydactyly, colobomata, intellectual disability syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
Preaxial polydactyly, colobomata, intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Preaxial polydactyly, colobomata, intellectual disability syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Existential restriction modifier	1
Preaxial polydactyly, colobomata, intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Radial polydactyly	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Finding site	Thumb structure	true	Inferred relationship	Existential restriction modifier	2
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Preaxial polydactyly, colobomata, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Preaxial polydactyly, colobomata, intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Preaxial polydactyly, colobomata, intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498722014	Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3498723016	Preaxial polydactyly, colobomata, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498724010	Pfeiffer Mayer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module