720958002: Frank-Ter Haar syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3322648013 Frank-Ter Haar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322649017 Ter Haar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322650017 Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3913931000052119 Frank-ter Haars syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Frank-Ter Haar syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Developmental delay	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Megalocornea	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Frank-Ter Haar syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Frank-Ter Haar syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Frank-Ter Haar syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Frank-Ter Haar syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	4
Frank-Ter Haar syndrome (disorder)	Finding site	Corneal structure	false	Inferred relationship	Some	4
Frank-Ter Haar syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Finding site	Corneal structure	true	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Finding site	Corneal structure	false	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	2
Frank-Ter Haar syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322647015	Frank-Ter Haar syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322648013	Frank-Ter Haar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322649017	Ter Haar syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322650017	Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3913931000052119	Frank-ter Haars syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)