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733110004: Van den Bosch syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498770015 Van den Bosch syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498771016 Van den Bosch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403746015 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403747012 A rare X-linked syndromic intellectual disability characterised by intellectual deficit, choroideraemia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. 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
Van den Bosch syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Acrokeratosis false Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Choroideremia true Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Van den Bosch syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Van den Bosch syndrome (disorder) Associated morphology Eruption false Inferred relationship Some 7
Van den Bosch syndrome (disorder) Finding site Skin structure false Inferred relationship Some 7
Van den Bosch syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 6
Van den Bosch syndrome (disorder) Finding site Choroidal structure false Inferred relationship Some 6
Van den Bosch syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Van den Bosch syndrome (disorder) Finding site Bone structure false Inferred relationship Some 5
Van den Bosch syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Van den Bosch syndrome (disorder) Interprets Keratinization false Inferred relationship Some 4
Van den Bosch syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 4
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Van den Bosch syndrome (disorder) Is a Congenital anomaly of choroid true Inferred relationship Some
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Van den Bosch syndrome (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Van den Bosch syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Van den Bosch syndrome (disorder) Associated morphology Eruption true Inferred relationship Some 2
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Van den Bosch syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Van den Bosch syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Van den Bosch syndrome (disorder) Finding site Choroidal structure true Inferred relationship Some 1
Van den Bosch syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Van den Bosch syndrome (disorder) Is a Inherited disorder of keratinisation false Inferred relationship Some
Van den Bosch syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Van den Bosch syndrome (disorder) Is a Eruption true Inferred relationship Some
Van den Bosch syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Van den Bosch syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Van den Bosch syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Van den Bosch syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Van den Bosch syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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