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721883006: Radioulnar synostosis with developmental delay and hypotonia 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
3326440010 Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326441014 Radioulnar synostosis with developmental delay and hypotonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326442019 Der Kaloustian McIntosh Silver syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402732011 Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402733018 Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). 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
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Radioulnar synostosis false Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius (body structure) false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Congenital radioulnar synostosis true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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