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715420005: syndrome des contractures congénitales létales type 3 (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302553018 Lethal congenital contracture syndrome type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302554012 Lethal congenital contracture syndrome type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747511000241118 syndrome des contractures congénitales létales type 3 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
971511000172111 syndrome des contractures congénitales létales type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
981251000172116 LCCS3 - lethal congenital contracture syndrome type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302555013 Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. 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 congenital contracture syndrome type 3 (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 2
Lethal congenital contracture syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 (disorder) interprète (attribut) Range of joint movement true Inferred relationship Some 2
Lethal congenital contracture syndrome type 3 (disorder) localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) Arthrogryposis false Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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