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715420005: Lethal congenital contracture syndrome type 3 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3302554012 Lethal congenital contracture syndrome type 3 en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal congenital contracture syndrome type 3 Has interpretation Decreased true Inferred relationship Some 2
Lethal congenital contracture syndrome type 3 Pathological process Pathological developmental process true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 Interprets Range of joint movement true Inferred relationship Some 2
Lethal congenital contracture syndrome type 3 Finding site Structure of joint region true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 Is a Inherited arthrogryposis true Inferred relationship Some
Lethal congenital contracture syndrome type 3 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal congenital contracture syndrome type 3 Is a Arthrogryposis false Inferred relationship Some
Lethal congenital contracture syndrome type 3 Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal congenital contracture syndrome type 3 Associated morphology Contracture true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 Occurrence Congenital true Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 Finding site Joint structure false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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