733606001: Summitt syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of joint region\Arthropathy\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Summitt syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Summitt syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Acrocephalosyndactyly\Summitt syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Acrocephalosyndactyly\Summitt syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499668012 Summitt syndrome en Synonym Active Case sensitive SNOMED CT core

3499669016 Summitt syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3499670015 Summitt's acrocephalosyndactyly en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	true	Inferred relationship	Some	1
Summitt syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Summitt syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Summitt syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Summitt syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Summitt syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
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	Inherited disorder of connective tissue	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499668012	Summitt syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499669016	Summitt syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3499670015	Summitt's acrocephalosyndactyly	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core