719256004: Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Lesion of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of neck\Lesion of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of neck\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\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\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\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\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin AND/OR subcutaneous tissue of neck\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental 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\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental 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\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3315704019 Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3315705018 Pterygium colli with intellectual disability and digital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3315706017 Khalifa Graham syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Is a	Neck webbing	true	Inferred relationship	Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Skin structure of neck	true	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Pterygium colli with intellectual disability and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	4
Pterygium colli with intellectual disability and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Congenital webbing	false	Inferred relationship	Existential restriction modifier	5
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Skin structure of neck	false	Inferred relationship	Existential restriction modifier	5
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Pterygium colli with intellectual disability and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pterygium colli with intellectual disability and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Pterygium colli with intellectual disability and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pterygium colli with intellectual disability and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Pterygium colli with intellectual disability and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Pterygium colli with intellectual disability and digital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Pterygium colli with intellectual disability and digital anomaly syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	1
Pterygium colli with intellectual disability and digital anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315704019	Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315705018	Pterygium colli with intellectual disability and digital anomaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3315706017	Khalifa Graham syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module