782951006: Thoracic dysplasia and hydrocephalus syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome

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

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome

\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome

\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome

\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756909018 Thoracic dysplasia and hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756910011 Thoracic dysplasia and hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756911010 An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987. 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
Thoracic dysplasia and hydrocephalus syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Communicating hydrocephalus	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	hydrocéphalie congénitale	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Congenital anomaly of rib	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Chronic brain syndrome	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	localisation d'une constatation (attribut)	Bone structure of rib	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	morphologie associée (attribut)	dilatation	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	localisation d'une constatation (attribut)	Brain cerebrospinal fluid pathway	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3756909018	Thoracic dysplasia and hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756910011	Thoracic dysplasia and hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756911010	An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core