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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
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
898521000172114 syndrome létal de Larsen-like fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
1008571000172111 letaal Larsen-achtig syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Lethal Larsen-like syndrome (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) Finding site Bone structure false Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) Associated morphology Dislocation true Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Lethal Larsen-like syndrome (disorder) Due to Spontaneous event (event) true Inferred relationship Some 4
Lethal Larsen-like syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Associated morphology Damage false Inferred relationship Some 5
Lethal Larsen-like syndrome (disorder) Is a Bone injury true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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