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716249009: Tetraamelia with multiple malformation 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
3305237013 Tetraamelia with multiple malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305238015 Tetraamelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305239011 Zimmer phocomelia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305241012 Tetra-amelia with multiple malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305240013 An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. 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
Tetraamelia with multiple malformation syndrome (disorder) Is a Hereditary disease false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital complete absence of upper limb false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital complete absence of lower limb false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire upper limb false Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire lower limb false Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Tetraamelia with multiple malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Tetraamelia with multiple malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire left upper extremity true Inferred relationship Some 1
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital deformity of bilateral upper limbs (disorder) false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Bilateral congenital deformity of lower limbs false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire left lower extremity true Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire right lower extremity true Inferred relationship Some 4
Tetraamelia with multiple malformation syndrome (disorder) Finding site Entire right upper extremity true Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 4
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital absence of right lower limb (disorder) false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital absence of left lower limb (disorder) false Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital complete absence of bilateral upper limbs (disorder) true Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Congenital complete absence of bilateral lower limbs true Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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