60192008: letaal multipele pterygiumsyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Lethal multiple pterygium syndrome
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Deformity (finding)\Joint deformity\Lethal multiple pterygium syndrome

\Skin AND/OR mucosa finding (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 (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

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

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\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)\Lesion of skin AND/OR subcutaneous tissue (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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

\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 involving the integument of fetus OR newborn\Congenital anomaly of integument\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)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome

\Hereditary myopathy (disorder)\Lethal multiple pterygium syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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 (disorder)\Lesion of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\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 involving the integument of fetus OR newborn\Congenital anomaly of integument\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)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Lethal multiple pterygium syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Lethal multiple pterygium syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Movement disorder\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Lethal multiple pterygium syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal multiple pterygium syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
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	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Lethal multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
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	gebrekkige ontwikkeling (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
Lethal multiple pterygium syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Lethal multiple pterygium syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lethal multiple pterygium syndrome	Pathological process (attribute)	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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Lethal multiple pterygium syndrome	Is a	Deformity of limb (finding)	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	false	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	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	congenitale deformiteit van bewegingsapparaat (aandoening)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
99984019	Lethal multiple pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799117010	Lethal multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6095511000146118	letaal multipele pterygiumsyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6095521000146111	LMPS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6095531000146113	letaal multipele pterygiumsyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)