FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

719409004: syndrome létal de Larsen-like (trouble)


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
754121000241114 syndrome létal de Larsen-like (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
898521000172114 syndrome létal de Larsen-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal Larsen-like syndrome (disorder) survenue (attribut) congénital 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) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Lethal Larsen-like syndrome (disorder) localisation d'une constatation (attribut) Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) Dislocation true Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) évolution clinique (attribut) progressif 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) Damage false Inferred relationship Some 5
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Bone injury true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Multiple dislocations with dysplasia true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Lethal Larsen-like syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start