771269000: Autosomal dominant multiple pterygium syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant 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\Autosomal dominant multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Autosomal dominant 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\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Finding of movement\Movement disorder\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Finding of movement\Motor dysfunction\Akinesia\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant multiple pterygium syndrome

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

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

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant multiple pterygium syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\Autosomal dominant 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\Autosomal dominant multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant multiple pterygium syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Movement disorder\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\Autosomal dominant 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\Autosomal dominant multiple pterygium syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autosomal dominant multiple pterygium syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\Autosomal dominant multiple pterygium syndrome

Status: current, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705361012 Autosomal dominant multiple pterygium syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3705362017 Distal arthrogryposis type 8 en Synonym Active Case insensitive SNOMED CT core

3705363010 Autosomal dominant multiple pterygium syndrome en Synonym Active Case insensitive SNOMED CT core

3705364016 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant multiple pterygium syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	2
Autosomal dominant multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal dominant multiple pterygium syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal dominant multiple pterygium syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Autosomal dominant multiple pterygium syndrome	Associated morphology	Congenital webbing	true	Inferred relationship	Some	3
Autosomal dominant multiple pterygium syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Autosomal dominant multiple pterygium syndrome	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Autosomal dominant multiple pterygium syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant multiple pterygium syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome	Finding site	Joint structure of limb	false	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome	Is a	Multiple pterygium syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705361012	Autosomal dominant multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705362017	Distal arthrogryposis type 8	en	Synonym	Active	Case insensitive	SNOMED CT core
3705363010	Autosomal dominant multiple pterygium syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705364016	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.	en	Definition	Active	Case sensitive	SNOMED CT core