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733606001: Summitt syndrome (disorder)

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

\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Genetic disease\Acrocephalosyndactyly\Summitt syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Summitt syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Summitt syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\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\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Summitt syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3499668012 Summitt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499669016 Summitt syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499670015 Summitt's acrocephalosyndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500047010 Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Summitt syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Summitt syndrome	Is a	Acrocephalosyndactyly	true	Inferred relationship	Some
Summitt syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Summitt syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Summitt syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Summitt syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Summitt syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Summitt syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Summitt syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	3
Summitt syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4
Summitt syndrome	Finding site	Digit structure	false	Inferred relationship	Some	4
Summitt syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Summitt syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Summitt syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Summitt syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	1
Summitt syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Summitt syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Summitt syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Summitt syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	2
Summitt syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Summitt syndrome	Associated morphology	Premature fusion	true	Inferred relationship	Some	1
Summitt syndrome	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499668012	Summitt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499669016	Summitt syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499670015	Summitt's acrocephalosyndactyly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500047010	Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core