1142198004: Congenital dysplasia of thorax (disorder)

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

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk (disorder)\Congenital anomaly of thorax\Congenital dysplasia of thorax (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4536942016 Congenital thoracic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4536943014 Congenital dysplasia of thorax (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5455309014 Congenital dysplasia of thorax en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia of thorax (disorder)	Finding site	Thoracic structure	true	Inferred relationship	Some	1
Congenital dysplasia of thorax (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital dysplasia of thorax (disorder)	Is a	Congenital anomaly of thorax	true	Inferred relationship	Some
Congenital dysplasia of thorax (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dysplasia of thorax (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dysplasia of bronchus (disorder)	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Dysplasia of lung	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Cerebro-costo-mandibular syndrome	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Congenital dysplasia of cardiac valve (disorder)	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
A rare syndromic primary bone dysplasia characterized by 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.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Short rib dysplasia	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Melorheostosis of rib	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some
Melorheostosis of sternum	Is a	True	Congenital dysplasia of thorax (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4536942016	Congenital thoracic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4536943014	Congenital dysplasia of thorax (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5455309014	Congenital dysplasia of thorax	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core