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721874001: Juberg Hayward syndrome (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
3326403019 Juberg Hayward syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326404013 Juberg Hayward syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326405014 Orocraniodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326406010 A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. 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
Juberg Hayward syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a Congenital malformation of thumb (disorder) true Inferred relationship Some
Juberg Hayward syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Finding site Thumb structure true Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Juberg Hayward syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Juberg Hayward syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Juberg Hayward syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Juberg Hayward syndrome (disorder) Finding site Thumb structure false Inferred relationship Some 4
Juberg Hayward syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Juberg Hayward syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Juberg Hayward syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Juberg Hayward syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Juberg Hayward syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Juberg Hayward syndrome (disorder) Finding site Bone structure true Inferred relationship Some 1
Juberg Hayward 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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