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719409004: Lethal Larsen-like syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3316246015 Lethal Larsen-like syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316247012 Lethal Larsen-like syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402100015 A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402101016 A rare developmental defect with connective tissue involvement characterised by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316246015 Lethal Larsen-like syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316247012 Lethal Larsen-like syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316248019 Larsen-like syndrome, lethal type, has characteristics of multiple joint dislocation and respiratory insufficiency due to tracheomalacia and or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients. Genetic factors have not been ruled out. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402100015 A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402101016 A rare developmental defect with connective tissue involvement characterised by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442751001000119 Larsen-ähnliches Syndrom, letale Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898521000172114 syndrome létal de Larsen-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898521000172114 syndrome létal de Larsen-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442751001000119 Larsen-ähnliches Syndrom, letale Form 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
Lethal Larsen-like syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Larsen-like syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Larsen-like syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Larsen-like syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Larsen-like syndrome (disorder) Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Larsen-like syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal Larsen-like syndrome (disorder) Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal Larsen-like syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Larsen-like syndrome (disorder) Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal Larsen-like syndrome (disorder) Is a Bone injury 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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