720958002: Frank-Ter Haar syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Frank-Ter Haar syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Frank-Ter Haar syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Frank-Ter Haar syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Frank-Ter Haar syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Frank-Ter Haar syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frank-Ter Haar syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Frank-Ter Haar syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Frank-Ter Haar 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\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Frank-Ter Haar syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Frank-Ter Haar syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Megalocornea\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Frank-Ter Haar syndrome
\Disease\Developmental disorder\Developmental delay\Frank-Ter Haar 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

3322647015 Frank-Ter Haar syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3322648013 Frank-Ter Haar syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3322649017 Ter Haar syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frank-Ter Haar syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Megalocornea	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Frank-Ter Haar syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Frank-Ter Haar syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Frank-Ter Haar syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Frank-Ter Haar syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	4
Frank-Ter Haar syndrome	Finding site	Corneal structure	false	Inferred relationship	Existential restriction modifier	4
Frank-Ter Haar syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar syndrome	Finding site	Corneal structure	true	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Frank-Ter Haar syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Finding site	Corneal structure	false	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Frank-Ter Haar syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	2
Frank-Ter Haar syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Frank-Ter Haar 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
3322647015	Frank-Ter Haar syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3322648013	Frank-Ter Haar syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322649017	Ter Haar syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module