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720427009: Acrofacial dysostosis Kennedy Teebi type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3320723010 Acrofacial dysostosis Kennedy Teebi type en Synonym Active Initial character case insensitive SNOMED CT core
3320724016 Kennedy Teebi syndrome en Synonym Active Case sensitive SNOMED CT core
3320725015 Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acrofacial dysostosis Kennedy Teebi type Pathological process Pathological developmental process true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Pathological process Pathological developmental process true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type Finding site Bone structure of extremity true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Occurrence Congenital true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Associated morphology Dysplasia true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type Associated morphology Dysplasia true Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Is a Developmental hereditary disorder true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Finding site Bone structure of face true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type Finding site Bone structure of extremity false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a Congenital anomaly of face bones true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a Dysostosis true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a Inherited disorder of connective tissue false Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Associated morphology Congenital dysplasia false Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type Occurrence Congenital true Inferred relationship Some 2
Acrofacial dysostosis Kennedy Teebi type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type Occurrence Congenital false Inferred relationship Some 3
Acrofacial dysostosis Kennedy Teebi type Is a Lesion of face true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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