782951006: Thoracic dysplasia and hydrocephalus syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome

\Finding of trunk structure\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
\Finding of trunk structure\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
\Finding of trunk structure\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
\Finding of trunk structure\Disorder of trunk (disorder)\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)\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
\Finding of trunk structure\Disorder of trunk (disorder)\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 (disorder)\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

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

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

\Finding of brain\Disorder of brain (disorder)\...

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

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

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Bone finding\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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 (disorder)\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of nervous system (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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of trunk (disorder)\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)\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\Disorder of trunk (disorder)\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 (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Communicating hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\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 malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thoracic dysplasia and hydrocephalus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\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

4347701000052118 syndrom med torakal dysplasi och hydrocefalus sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

5890421000052119 syndrom med thorakal dysplasi och hydrocefalus sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	false	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Pathological process (attribute)	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 (attribute)	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	false	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Thoracic dysplasia and hydrocephalus syndrome	Clinical course	Progressive (qualifier value)	false	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 cerebrospinal fluid 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	false	Inferred relationship	Some	4
Thoracic dysplasia and hydrocephalus syndrome	Interprets	Limb length	true	Inferred relationship	Some	4
Thoracic dysplasia and hydrocephalus syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Thoracic dysplasia and hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Thoracic dysplasia and hydrocephalus syndrome	Is a	Rhizomelic dysplasia (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
4347701000052118	syndrom med torakal dysplasi och hydrocefalus	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
5890421000052119	syndrom med thorakal dysplasi och hydrocefalus	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)