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

SNOMED CT Concept\Clinical finding\...

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

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly 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 limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly 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 anomaly 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 anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly 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 anomaly 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 anomaly 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\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome

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

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\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\Coloboma of eye\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\Intellectual ability - finding\Intellectual disability\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\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\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly 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 limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly 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 anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly 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 anomaly\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 anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Preaxial polydactyly, colobomata, intellectual disability syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3498723016 Preaxial polydactyly, colobomata, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3498724010 Pfeiffer Mayer syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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