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720427009: Acrofacial dysostosis Kennedy Teebi type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3320722017 Acrofacial dysostosis Kennedy Teebi type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320723010 Acrofacial dysostosis Kennedy Teebi type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320724016 Kennedy Teebi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402328015 A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. 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
Acrofacial dysostosis Kennedy Teebi type (disorder) Finding site Bone structure of face true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type (disorder) Finding site Bone structure of extremity false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Congenital anomaly of face bones true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Dysostosis true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type (disorder) Occurrence Congenital true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type (disorder) Occurrence Congenital false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Lesion of face true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a Congenital dysplasia of limb (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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