719845008: Van den Ende-Gupta syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (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\Van den Ende-Gupta syndrome (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\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Van den Ende-Gupta syndrome (disorder)
\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\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\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\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Van den Ende-Gupta syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Van den Ende-Gupta syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Van den Ende-Gupta syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318141014 Van den Ende-Gupta syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318142019 Van den Ende-Gupta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318143012 Marden Walker like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318144018 A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402265016 Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402266015 Van den Ende-Gupta syndrome is a very rare syndrome characterised by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. 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
Van den Ende-Gupta syndrome (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	Amyoplasia congenita disruptive sequence	false	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Van den Ende-Gupta syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	4
Van den Ende-Gupta syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Van den Ende-Gupta syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	5
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	5
Van den Ende-Gupta syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Van den Ende-Gupta syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Van den Ende-Gupta syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Van den Ende-Gupta syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Van den Ende-Gupta syndrome (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Van den Ende-Gupta syndrome (disorder)	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	4
Van den Ende-Gupta syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318141014	Van den Ende-Gupta syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318142019	Van den Ende-Gupta syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318143012	Marden Walker like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318144018	A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402265016	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402266015	Van den Ende-Gupta syndrome is a very rare syndrome characterised by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core