782951006: Thoracic dysplasia and hydrocephalus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of upper trunk\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
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome

\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head\Encephalopathy\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of trunk\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\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of trunk\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\Disorder of trunk\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\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Developmental disorder\Congenital anomaly\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\Developmental disorder\Congenital anomaly\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\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Thoracic dysplasia and hydrocephalus syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756909018 Thoracic dysplasia and hydrocephalus syndrome en Synonym Active Case insensitive SNOMED CT core

3756910011 Thoracic dysplasia and hydrocephalus syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thoracic dysplasia and hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	Communicating hydrocephalus	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	Congenital anomaly of rib	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	Clinical course	Progressive	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	Finding site	Bone structure of rib	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Interprets	Height / growth measure	true	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756909018	Thoracic dysplasia and hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3756910011	Thoracic dysplasia and hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core