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733606001: syndrome de Summitt (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\...

\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

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome

\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Genetic disease\Acrocephalosyndactyly\Summitt syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Summitt syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Summitt syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Summitt syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Acrocephalosyndactyly\Summitt syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Summitt syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Acrocephalosyndactyly\Summitt syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Summitt syndrome
\Disease\trouble du développement\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

763361000241114 syndrome de Summitt (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

967431000172117 syndrome de Summitt fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Summitt syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	true	Inferred relationship	Some	1
Summitt syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Summitt syndrome	morphologie associée (attribut)	Congenital premature fusion	true	Inferred relationship	Some	1
Summitt syndrome	localisation d'une constatation (attribut)	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	morphologie associée (attribut)	Congenital abnormal fusion	true	Inferred relationship	Some	2
Summitt syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Summitt syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Summitt syndrome	est un(e) (attribut)	Acrocephalosyndactyly	true	Inferred relationship	Some
Summitt syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Summitt syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Summitt syndrome	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some
Summitt syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Summitt syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Summitt syndrome	morphologie associée (attribut)	Congenital premature fusion	false	Inferred relationship	Some	3
Summitt syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	3
Summitt syndrome	morphologie associée (attribut)	Congenital abnormal fusion	false	Inferred relationship	Some	4
Summitt syndrome	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB 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
763361000241114	syndrome de Summitt (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
967431000172117	syndrome de Summitt	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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