721874001: Juberg Hayward syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Juberg Hayward syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward 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\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Juberg Hayward syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Disorder of hand\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Disorder of upper extremity\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital malformation of thumb\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3326403019 Juberg Hayward syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3326404013 Juberg Hayward syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3326405014 Orocraniodigital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juberg Hayward syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Juberg Hayward syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Juberg Hayward syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Juberg Hayward syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Juberg Hayward syndrome	Is a	Congenital malformation of thumb	true	Inferred relationship	Existential restriction modifier
Juberg Hayward syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Finding site	Thumb structure	true	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Juberg Hayward syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Juberg Hayward syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Juberg Hayward syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Juberg Hayward syndrome	Finding site	Thumb structure	false	Inferred relationship	Existential restriction modifier	4
Juberg Hayward syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Juberg Hayward syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Juberg Hayward syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Juberg Hayward syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Juberg Hayward syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Juberg Hayward syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Juberg Hayward syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Juberg Hayward syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Juberg Hayward syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Juberg Hayward syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Juberg Hayward syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3326403019	Juberg Hayward syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3326404013	Juberg Hayward syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3326405014	Orocraniodigital syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module