733046006: Hemifacial hyperplasia strabismus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Finding of head region\Finding of face\Disorder of face\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome

\Disorder of head\Disorder of eye region\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disorder of head\Disorder of face\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disorder of head\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Hereditary disorder of the visual system\Hemifacial hyperplasia strabismus syndrome

\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Disorder of eye movements\Strabismus\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hemifacial hyperplasia strabismus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head\Disorder of face\Hemifacial hyperplasia\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hemifacial hyperplasia strabismus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Hemifacial hyperplasia strabismus syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3498631019 Hemifacial hyperplasia strabismus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3498632014 Bencze syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3498633016 Hemifacial hyperplasia strabismus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemifacial hyperplasia strabismus syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome	Is a	Congenital strabismus	true	Inferred relationship	Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome	Is a	Hemifacial hyperplasia	true	Inferred relationship	Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Hemifacial hyperplasia strabismus syndrome	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier	3
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Congenital hyperplasia	false	Inferred relationship	Existential restriction modifier	4
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Hemifacial hyperplasia strabismus syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hemifacial hyperplasia strabismus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hemifacial hyperplasia strabismus syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hemifacial hyperplasia strabismus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hemifacial hyperplasia strabismus syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Hemifacial hyperplasia strabismus syndrome	Finding site	Eye region structure	true	Inferred relationship	Existential restriction modifier	2
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Hemifacial hyperplasia strabismus syndrome	Associated morphology	Hyperplasia	true	Inferred relationship	Existential restriction modifier	1
Hemifacial hyperplasia strabismus 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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498631019	Hemifacial hyperplasia strabismus syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498632014	Bencze syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3498633016	Hemifacial hyperplasia strabismus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module