720817008: Craniosynostosis Boston type (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)

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

\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\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)

\Skull finding\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)

\Disorder of head (disorder)\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis Boston type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Craniosynostosis Boston type (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (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\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis Boston type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Craniosynostosis Boston type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Craniosynostosis Boston type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Craniosynostosis Boston type (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Craniosynostosis Boston type (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Craniosynostosis Boston type (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	6
Craniosynostosis Boston type (disorder)	Finding site	Face structure	true	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis Boston type (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	2
Craniosynostosis Boston type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Craniosynostosis Boston type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis Boston type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Craniosynostosis Boston type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis Boston type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniosynostosis Boston type (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Craniosynostosis Boston type (disorder)	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Craniosynostosis Boston type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Craniosynostosis Boston type (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Craniosynostosis Boston type (disorder)	Is a	Disorder of skull (disorder)	true	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3322169011	Craniosynostosis Boston type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322170012	Craniosynostosis Boston type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322171011	Craniosynostosis Warman type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322172016	Warman Mulliken Hayward syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322173014	A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
980491000172119	craniosynostose type Warman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
995741000172110	craniosynostose type Boston	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
869871000172118	craniosynostose, Boston-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
983271000172110	craniosynostose, Warman-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)