75049004: Jeune thoracic dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy

\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy

\Disease\Genetic disease\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Jeune thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Jeune thoracic dystrophy
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Jeune thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\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\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1233824018 Jeune thoracic dysplasia en Synonym Active Case sensitive SNOMED CT core

1233825017 Jeune syndrome en Synonym Active Case sensitive SNOMED CT core

124644017 Jeune thoracic dystrophy en Synonym Active Case sensitive SNOMED CT core

124645016 Asphyxiating thoracic dystrophy en Synonym Active Case insensitive SNOMED CT core

815615019 Jeune thoracic dystrophy (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3500050013 A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Jeune thoracic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Jeune thoracic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Jeune thoracic dystrophy	Is a	Congenital deformity	false	Inferred relationship	Some
Jeune thoracic dystrophy	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Jeune thoracic dystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Disorder of trunk	false	Inferred relationship	Some
Jeune thoracic dystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Is a	Disorder of thorax	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Achondrogenesis	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Disorder of thorax	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Degenerative disorder	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Congenital anomaly	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Short stature disorder	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Congenital anomaly of thorax	false	Inferred relationship	Some
Jeune thoracic dystrophy	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Finding site	Structure of thorax	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Jeune thoracic dystrophy	Finding site	Limb structure	false	Inferred relationship	Some	2
Jeune thoracic dystrophy	Finding site	Structure of thorax	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Finding site	Limb structure	false	Inferred relationship	Some	2
Jeune thoracic dystrophy	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Jeune thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	4
Jeune thoracic dystrophy	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Jeune thoracic dystrophy	Finding site	Limb structure	false	Inferred relationship	Some	3
Jeune thoracic dystrophy	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	4
Jeune thoracic dystrophy	Finding site	Structure of thorax	false	Inferred relationship	Some	4
Jeune thoracic dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Jeune thoracic dystrophy	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Short rib dysplasia	true	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Jeune thoracic dystrophy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Jeune thoracic dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Jeune thoracic dystrophy	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Jeune thoracic dystrophy	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	2
Jeune thoracic dystrophy	Finding site	Entire limb	true	Inferred relationship	Some	2
Jeune thoracic dystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some
Jeune thoracic dystrophy	Finding site	Structure of musculoskeletal system of thorax	false	Inferred relationship	Some
Jeune thoracic dystrophy	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Jeune thoracic dystrophy	Finding site	Both upper extremities	false	Inferred relationship	Some
Jeune thoracic dystrophy	Finding site	Both lower extremities	false	Inferred relationship	Some
Jeune thoracic dystrophy	Finding site	Bone structure	false	Inferred relationship	Some	1
Jeune thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Is a	True	Jeune thoracic dystrophy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1233824018	Jeune thoracic dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
1233825017	Jeune syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
124644017	Jeune thoracic dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
124645016	Asphyxiating thoracic dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
815615019	Jeune thoracic dystrophy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3500050013	A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core