723556008: Thoracolaryngopelvic dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Finding of pelvis\Finding of bone of pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia

\Musculoskeletal finding\Bone finding\Finding of bone of pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia

\Disease\Genetic disease\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracolaryngopelvic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thoracolaryngopelvic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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 pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of pelvis\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of the pelvis\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia
\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\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Thoracolaryngopelvic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of pelvic bones\Thoracolaryngopelvic dysplasia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425099011 Thoracolaryngopelvic dysplasia en Synonym Active Case insensitive SNOMED CT core

3425100015 Barnes syndrome en Synonym Active Case sensitive SNOMED CT core

3425102011 Thoracolaryngopelvic dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3425103018 Thoracolaryngopelvic dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3425101016 A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thoracolaryngopelvic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thoracolaryngopelvic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Thoracolaryngopelvic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Finding site	Bone structure of rib	true	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Finding site	Structure of innominate bone and/or sacrum and/or coccyx	true	Inferred relationship	Some	1
Thoracolaryngopelvic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Thoracolaryngopelvic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	Congenital anomaly of pelvic bones	true	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	Short rib dysplasia	true	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Finding site	Bone structure of rib	false	Inferred relationship	Some	3
Thoracolaryngopelvic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Thoracolaryngopelvic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	4
Thoracolaryngopelvic dysplasia	Finding site	Structure of innominate bone and/or sacrum and/or coccyx	false	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3425099011	Thoracolaryngopelvic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3425100015	Barnes syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3425102011	Thoracolaryngopelvic dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425103018	Thoracolaryngopelvic dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3425101016	A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core