60192008: Lethal multiple pterygium syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Lethal multiple pterygium syndrome
\Deformity\Congenital deformity\Lethal multiple pterygium syndrome
\Deformity\Joint deformity\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\Lethal multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

\Finding of limb structure\Deformity of limb\Lethal multiple pterygium syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome

\Finding of movement\Movement disorder\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Finding of movement\Motor dysfunction\Akinesia\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\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\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\Lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium 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\Lethal multiple pterygium syndrome

\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\Lethal multiple pterygium syndrome
\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\Lethal multiple pterygium syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\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\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\Lethal multiple pterygium syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\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\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\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\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\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium 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\Lethal multiple pterygium 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\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Movement disorder\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\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\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

799117010 Lethal multiple pterygium syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

99984019 Lethal multiple pterygium syndrome en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal multiple pterygium syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Is a	Deformity of limb	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Finding site	Skin structure	true	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Is a	Lesion of joint	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Congenital deformity	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Joint deformity	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Interprets	Movement	true	Inferred relationship	Some	5
Lethal multiple pterygium syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Inherited arthrogryposis	false	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Multiple pterygium syndrome	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Finding site	Joint structure of limb	true	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Finding site	Joint structure of limb	false	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
799117010	Lethal multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
99984019	Lethal multiple pterygium syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core