733037000: German syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German 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\German 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\German 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\German syndrome (disorder)

\Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German 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\German syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German syndrome (disorder)
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\German syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\German syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\German 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\German syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\German 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\German syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\German 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\German 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\German syndrome (disorder)
\Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German 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\German 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\German syndrome (disorder)
\Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\German syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Developmental disorder\Primary lymphedema\Hereditary lymphedema\German syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphedema\German syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\German syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\German syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\German 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\German syndrome (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

3498620010 German syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498621014 German syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403685015 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403686019 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterised by arthrogryposis, hypotonia-hypokinesia sequence, and lymphoedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. 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
German syndrome (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
German syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
German syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
German syndrome (disorder)	Is a	Hereditary lymphedema	true	Inferred relationship	Some
German syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
German syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
German syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
German syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	5
German syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
German syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
German syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	7
German syndrome (disorder)	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	4
German syndrome (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	7
German syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
German syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
German syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
German syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
German syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
German syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
German syndrome (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	1
German syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
German syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	1
German syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
German syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
German syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
German syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
German syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	1
German syndrome (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	1
German syndrome (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
German syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	4
German syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
German syndrome (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	5
German syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	5

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
3498620010	German syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498621014	German syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403685015	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403686019	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterised by arthrogryposis, hypotonia-hypokinesia sequence, and lymphoedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core