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723556008: Thoracolaryngopelvic dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425099011 Thoracolaryngopelvic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425100015 Barnes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425102011 Thoracolaryngopelvic dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425103018 Thoracolaryngopelvic dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403110019 Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403111015 Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterised by thoracic dystrophy, laryngeal stenosis and a small pelvis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425099011 Thoracolaryngopelvic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425100015 Barnes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425102011 Thoracolaryngopelvic dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425103018 Thoracolaryngopelvic dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403110019 Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403111015 Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterised by thoracic dystrophy, laryngeal stenosis and a small pelvis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435611001000116 Dysostose, thorakopelvine de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5485661000241110 syndrome de dysplasie thoracolaryngopelvienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5485661000241110 syndrome de dysplasie thoracolaryngopelvienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435611001000116 Dysostose, thorakopelvine de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Congenital anomaly of pelvic bones true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Short rib dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracolaryngopelvic dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracolaryngopelvic dysplasia syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thoracolaryngopelvic dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thoracolaryngopelvic dysplasia syndrome (disorder) Finding site Structure of innominate bone and/or sacrum and/or coccyx (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thoracolaryngopelvic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracolaryngopelvic dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracolaryngopelvic dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracolaryngopelvic dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracolaryngopelvic dysplasia syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracolaryngopelvic dysplasia syndrome (disorder) Finding site Structure of innominate bone and/or sacrum and/or coccyx (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracolaryngopelvic dysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracolaryngopelvic dysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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