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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
3326440010 Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3323160015 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
3326446016 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
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
3384071001000116 Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384071001000116 Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Radioulnar synostosis false Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Congenital radioulnar synostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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