897570002: distale artrogrypose type 3 (aandoening)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Distal arthrogryposis type 3 (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\Distal arthrogryposis type 3 (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\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Distal arthrogryposis type 3 (disorder)

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Distal arthrogryposis type 3 (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Distal arthrogryposis type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal arthrogryposis type 3 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	Cleft palate	true	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Distal arthrogryposis type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal arthrogryposis type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal arthrogryposis type 3 (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	1
Distal arthrogryposis type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Distal arthrogryposis type 3 (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Distal arthrogryposis type 3 (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Distal arthrogryposis type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal arthrogryposis type 3 (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Distal arthrogryposis type 3 (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Distal arthrogryposis type 3 (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Distal arthrogryposis type 3 (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
Distal arthrogryposis type 3 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Distal arthrogryposis type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Distal arthrogryposis type 3 (disorder)	Interprets	Height / growth measure	false	Inferred relationship	Some	5
Distal arthrogryposis type 3 (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	4
Distal arthrogryposis type 3 (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4

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
4034345017	Distal arthrogryposis type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034347013	Distal arthrogryposis type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171584014	Camptodactyly, cleft palate, clubfoot syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171585010	Distal arthrogryposis type IIA	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5171586011	Gordon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12133101000146110	distale artrogrypose type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12133111000146112	distale artrogrypose type 3 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4034751013	Distal arthrogryposis type 3 is an autosomal dominant non-progressive myopathy with contractures of the hands, ankle and feet along with cleft palate and short stature.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core