763462004: X-linked lethal multiple pterygium syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Finding of movement\Movement disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Finding of movement\Motor dysfunction\Akinesia\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Movement disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3642534015 X-linked lethal multiple pterygium syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3642535019 X-linked lethal multiple pterygium syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked lethal multiple pterygium syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
X-linked lethal multiple pterygium syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
X-linked lethal multiple pterygium syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier
X-linked lethal multiple pterygium syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked lethal multiple pterygium syndrome	Is a	Multiple pterygium syndrome	true	Inferred relationship	Existential restriction modifier
X-linked lethal multiple pterygium syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
X-linked lethal multiple pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
X-linked lethal multiple pterygium syndrome	Finding site	Joint structure of limb	false	Inferred relationship	Existential restriction modifier	2
X-linked lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
X-linked lethal multiple pterygium syndrome	Finding site	Joint structure of limb	false	Inferred relationship	Existential restriction modifier	1
X-linked lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked lethal multiple pterygium syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
X-linked lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked lethal multiple pterygium syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
X-linked lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
X-linked lethal multiple pterygium syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	2
X-linked lethal multiple pterygium syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Existential restriction modifier	3
X-linked lethal multiple pterygium syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
X-linked lethal multiple pterygium syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3

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
3642534015	X-linked lethal multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3642535019	X-linked lethal multiple pterygium syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module