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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
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
3499977015 Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499978013 Syndrome that is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. en Definition 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
3444331001000115 Van den Bosch-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
998481000172115 syndrome de Van der Bosch fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
998481000172115 syndrome de Van der Bosch fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444331001000115 Van den Bosch-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
Van den Bosch syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Acrokeratosis false Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Choroideraemia true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Van den Bosch syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Van den Bosch syndrome (disorder) Associated morphology Eruption false Inferred relationship Existential restriction modifier (core metadata concept) 7
Van den Bosch syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Van den Bosch syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 6
Van den Bosch syndrome (disorder) Finding site Choroidal structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Van den Bosch syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Bosch syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Bosch syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Van den Bosch syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 4
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Van den Bosch syndrome (disorder) Is a Congenital anomaly of choroid true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Van den Bosch syndrome (disorder) Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Van den Bosch syndrome (disorder) Associated morphology Eruption true Inferred relationship Existential restriction modifier (core metadata concept) 2
Van den Bosch syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Van den Bosch syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Van den Bosch syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Van den Bosch syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Van den Bosch syndrome (disorder) Finding site Choroidal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Van den Bosch syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Van den Bosch syndrome (disorder) Is a Inherited disorder of keratinisation false Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Van den Bosch syndrome (disorder) Is a Eruption true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Van den Bosch syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Van den Bosch syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Bosch syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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