83015004: Saethre-Chotzen syndrome (disorder)

\Finding of head region\Saethre-Chotzen syndrome

\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome

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

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Saethre-Chotzen syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Acrocephalosyndactyly\Saethre-Chotzen syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Saethre-Chotzen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital abnormal fusion	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	2
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital premature fusion	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Saethre-Chotzen syndrome	est un(e) (attribut)	Congenital anomaly of bone and joint	false	Inferred relationship	Some
Saethre-Chotzen syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Saethre-Chotzen syndrome	est un(e) (attribut)	anomalie congénitale du crâne (trouble)	false	Inferred relationship	Some
Saethre-Chotzen syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Structure of coronal suture of skull	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	est un(e) (attribut)	Finding of head region	true	Inferred relationship	Some
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	est un(e) (attribut)	syndrome de craniosynostose (trouble)	false	Inferred relationship	Some
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital premature fusion	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital premature fusion	false	Inferred relationship	Some	2
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	3
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	3
Saethre-Chotzen syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital premature fusion	false	Inferred relationship	Some	4
Saethre-Chotzen syndrome	est un(e) (attribut)	Acrocephalosyndactyly	true	Inferred relationship	Some
Saethre-Chotzen syndrome	morphologie associée (attribut)	Congenital abnormal fusion	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	1
Saethre-Chotzen syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
137693011	Saethre-Chotzen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
137694017	Acrocephalosyndactyly, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
473641000241116	syndrome de Saethre-Chotzen (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
824560018	Saethre-Chotzen syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
890461000172116	syndrome de Saethre-Chotzen	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955791000172113	ACS3 - acro-céphalo-syndactylie type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)