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724284005: Hypertelorism Teebi type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3433657016 Hypertelorism Teebi type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3433658014 Hypertelorism Teebi type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3433659018 Brachycephalofrontonasal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3433660011 Craniofrontonasal dysplasia Teebi type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3433661010 Teebi hypertelorism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433662015 Teebi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403306011 A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403307019 A rare autosomal dominant malformation syndrome characterised by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. 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
Hypertelorism Teebi type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a Frontonasal dysplasia sequence true Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a Sphenoidal dysostosis true Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypertelorism Teebi type (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypertelorism Teebi type (disorder) Occurrence Congenital false Inferred relationship Some 4
Hypertelorism Teebi type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Hypertelorism Teebi type (disorder) Finding site Sphenoid bone structure false Inferred relationship Some 3
Hypertelorism Teebi type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Hypertelorism Teebi type (disorder) Finding site Face structure false Inferred relationship Some 4
Hypertelorism Teebi type (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Finding site Face structure true Inferred relationship Some 1
Hypertelorism Teebi type (disorder) Finding site Sphenoid bone structure true Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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