726620005: letale vorm van syndroom van artrogrypose en hyperkeratose (aandoening)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

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

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\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\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\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\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\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\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Keratosis\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Arthrogryposis hyperkeratosis syndrome lethal form (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3451039019 Arthrogryposis hyperkeratosis syndrome lethal form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3451040017 Johnston Aarons Schelley syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6588571000146116 syndroom van Johnston-Aarons-Schelley nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6588581000146119 Johnston-Aarons-Schelley-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6746191000146115 letale vorm van syndroom van artrogrypose en hyperkeratose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6746201000146118 letale vorm van syndroom van artrogrypose en hyperkeratose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	amyoplasia congenita (aandoening)	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	hyperkeratose (aandoening)	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	Lesion (morphologic abnormality)	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	Lesion (morphologic abnormality)	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	Skin lesion	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	Functional finding	false	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	Keratoderma	true	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3451038010	Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451039019	Arthrogryposis hyperkeratosis syndrome lethal form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451040017	Johnston Aarons Schelley syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6588571000146116	syndroom van Johnston-Aarons-Schelley	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6588581000146119	Johnston-Aarons-Schelley-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6746191000146115	letale vorm van syndroom van artrogrypose en hyperkeratose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6746201000146118	letale vorm van syndroom van artrogrypose en hyperkeratose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core