205819008: Multiple pterygium syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion (disorder)\Multiple pterygium syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome

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

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion (disorder)\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
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\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
\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
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome

\Neurological finding (finding)\Motor nervous system finding\Motor dysfunction\Akinesia\Multiple pterygium syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion (disorder)\Multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\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
\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
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome
\Disease\Movement disorder\Multiple pterygium syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion (disorder)\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multiple pterygium syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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:

Id Description Lang Type Status Case? Module

315618013 Multiple pterygium syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591240018 Multiple pterygium syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1411101000005113 Multipterygiumsyndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple pterygium syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Multiple pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Multiple pterygium syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some
Multiple pterygium syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Multiple pterygium syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Multiple pterygium syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Is a	Disorder of musculoskeletal system	false	Inferred relationship	Some
Multiple pterygium syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Multiple pterygium syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Multiple pterygium syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Multiple pterygium syndrome	Is a	Arthrogryposis (disorder)	false	Inferred relationship	Some
Multiple pterygium syndrome	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Multiple pterygium syndrome	Associated morphology	Contracture	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple pterygium syndrome	Finding site	Joint structure of limb	false	Inferred relationship	Some	1
Multiple pterygium syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple pterygium syndrome	Is a	Akinesia	true	Inferred relationship	Some
Multiple pterygium syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Some	1
Multiple pterygium syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Multiple pterygium syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Multiple pterygium syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Multiple pterygium syndrome	Is a	Skin lesion (disorder)	true	Inferred relationship	Some
Multiple pterygium syndrome	Interprets	Movement	true	Inferred relationship	Some	2
Multiple pterygium syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Multiple pterygium syndrome	Is a	Movement disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal multiple pterygium syndrome	Is a	True	Multiple pterygium syndrome	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.	Is a	True	Multiple pterygium syndrome	Inferred relationship	Some
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.	Is a	True	Multiple pterygium syndrome	Inferred relationship	Some

Reference Sets

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US English

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Id	Description	Lang	Type	Status	Case?	Module
315618013	Multiple pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591240018	Multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1411101000005113	Multipterygiumsyndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)