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 anomaly of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly 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 anomaly 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 limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly 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 anomaly 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 anomaly 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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Juberg Hayward syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly 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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Juberg Hayward syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Juberg Hayward syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3326403019 Juberg Hayward syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3326404013 Juberg Hayward syndrome en Synonym Active Case sensitive SNOMED CT core

3326405014 Orocraniodigital syndrome en Synonym Active Case insensitive SNOMED CT core

3326406010 A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3326403019	Juberg Hayward syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3326404013	Juberg Hayward syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326405014	Orocraniodigital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326406010	A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	en	Definition	Active	Case sensitive	SNOMED CT core