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715420005: Lethal congenital contracture syndrome type 3 (disorder)

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
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
3302553018 Lethal congenital contracture syndrome type 3 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
3419861001000110 Syndrom der kongenitalen letalen Kontrakturen Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971511000172111 syndrome des contractures congénitales létales type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981251000172116 LCCS3 - lethal congenital contracture syndrome type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971511000172111 syndrome des contractures congénitales létales type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981251000172116 LCCS3 - lethal congenital contracture syndrome type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419861001000110 Syndrom der kongenitalen letalen Kontrakturen Typ 3 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 congenital contracture syndrome type 3 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder) Is a Arthrogryposis false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal congenital contracture syndrome type 3 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal congenital contracture syndrome type 3 (disorder) Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal congenital contracture syndrome type 3 (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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