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715531000: Tibial aplasia and ectrodactyly syndrome (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
3302940010 Tibial aplasia and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302941014 Tibial aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302942019 Aplasia of tibia with split hand split foot deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302943012 Tibial hemimelia ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302944018 Split hand foot malformation with long bone deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400950018 Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400951019 Tibial aplasia-ectrodactyly syndrome is a rare condition characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302940010 Tibial aplasia and ectrodactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302940010 Tibial aplasia and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302941014 Tibial aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302941014 Tibial aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302942019 Aplasia of tibia with split hand split foot deformity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302942019 Aplasia of tibia with split hand split foot deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302943012 Tibial hemimelia ectrodactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302943012 Tibial hemimelia ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302944018 Split hand foot malformation with long bone deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302944018 Split hand foot malformation with long bone deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302946016 A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400950018 Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400951019 Tibial aplasia-ectrodactyly syndrome is a rare condition characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441471001000113 Tibiaaplasie - Ektrodaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883751000172117 syndrome de tibia aplasique-ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993831000172114 aplasie du tibia avec anomalie des mains et pieds fendus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883751000172117 syndrome de tibia aplasique-ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993831000172114 aplasie du tibia avec anomalie des mains et pieds fendus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441471001000113 Tibiaaplasie - Ektrodaktylie 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
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Ectrodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Congenital anomaly of tibia false Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Finding site Bone structure of tibia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Finding site Bone structure of tibia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Absence of tibia false Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Congenital absence of tibia false Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a Aplasia of tibia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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