715986009: Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Deformity\Congenital deformity\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Deformity\Congenital deformity\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome

\Finding of limb structure\Deformity of limb\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome

\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\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly with joint contracture and facial skeletal defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3304330019 Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304331015 Camptodactyly with joint contracture and facial skeletal defect syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304332010 Rozin Hertz Goodman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304333017 Rozin camptodactyly syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Camptodactyly with joint contracture and facial skeletal defect syndrome	Is a	Camptodactyly	true	Inferred relationship	Existential restriction modifier
Camptodactyly with joint contracture and facial skeletal defect syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Camptodactyly with joint contracture and facial skeletal defect syndrome	Is a	Arthrogryposis	true	Inferred relationship	Existential restriction modifier
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Finger structure	false	Inferred relationship	Existential restriction modifier	7
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	5
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	5
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Finger structure	false	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Existential restriction modifier	2
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Existential restriction modifier	2
Camptodactyly with joint contracture and facial skeletal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Camptodactyly with joint contracture and facial skeletal defect syndrome	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Camptodactyly with joint contracture and facial skeletal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Camptodactyly with joint contracture and facial skeletal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Camptodactyly with joint contracture and facial skeletal defect syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Camptodactyly with joint contracture and facial skeletal defect syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Existential restriction modifier	2
Camptodactyly with joint contracture and facial skeletal defect syndrome	Finding site	Musculoskeletal system structure of digit	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3304330019	Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304331015	Camptodactyly with joint contracture and facial skeletal defect syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304332010	Rozin Hertz Goodman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304333017	Rozin camptodactyly syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module