726620005: Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form

\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\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form

\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Keratosis\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Arthrogryposis hyperkeratosis syndrome lethal form
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3451038010 Arthrogryposis hyperkeratosis syndrome lethal form (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3451039019 Arthrogryposis hyperkeratosis syndrome lethal form en Synonym Active Case insensitive SNOMED CT core

3451040017 Johnston Aarons Schelley syndrome en Synonym Active Case sensitive SNOMED CT core

3451041018 An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arthrogryposis hyperkeratosis syndrome lethal form	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form	Occurrence	Congenital	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form	Occurrence	Congenital	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Contracture	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Lesion	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Skin structure	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Skin lesion	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form	Has interpretation	Decreased	true	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Functional finding	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Skin structure	true	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Keratoderma	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Amyoplasia congenita disruptive sequence	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Is a	Hyperkeratosis	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form	Occurrence	Congenital	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Joint structure	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form	Occurrence	Congenital	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form	Occurrence	Congenital	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Joint structure	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Lesion	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form	Finding site	Skin structure	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Contracture	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form	Interprets	Keratinisation	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3451038010	Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451039019	Arthrogryposis hyperkeratosis syndrome lethal form	en	Synonym	Active	Case insensitive	SNOMED CT core
3451040017	Johnston Aarons Schelley syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3451041018	An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core