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733110004: Van den Bosch syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3498771016 Van den Bosch syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Van den Bosch syndrome Occurrence Congenital true Inferred relationship Some 3
Van den Bosch syndrome Is a Congenital anomaly of choroid true Inferred relationship Some
Van den Bosch syndrome Occurrence Congenital true Inferred relationship Some 2
Van den Bosch syndrome Is a Congenital anomaly of skin true Inferred relationship Some
Van den Bosch syndrome Finding site Skin structure true Inferred relationship Some 2
Van den Bosch syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Van den Bosch syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Van den Bosch syndrome Associated morphology Eruption true Inferred relationship Some 2
Van den Bosch syndrome Occurrence Congenital true Inferred relationship Some 1
Van den Bosch syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Van den Bosch syndrome Finding site Bone structure true Inferred relationship Some 3
Van den Bosch syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Van den Bosch syndrome Finding site Choroidal structure true Inferred relationship Some 1
Van den Bosch syndrome Associated morphology Degeneration false Inferred relationship Some 1
Van den Bosch syndrome Is a Inherited disorder of keratinisation false Inferred relationship Some
Van den Bosch syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Van den Bosch syndrome Is a Rash true Inferred relationship Some
Van den Bosch syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Van den Bosch syndrome Interprets Intellectual ability true Inferred relationship Some 4
Van den Bosch syndrome Has interpretation Impaired true Inferred relationship Some 4
Van den Bosch syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Van den Bosch syndrome Has interpretation Impaired true Inferred relationship Some 5
Van den Bosch syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Van den Bosch syndrome Is a Acrokeratosis false Inferred relationship Some
Van den Bosch syndrome Is a Choroideraemia true Inferred relationship Some
Van den Bosch syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Van den Bosch syndrome Is a Intellectual disability false Inferred relationship Some
Van den Bosch syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Van den Bosch syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Van den Bosch syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Van den Bosch syndrome Has definitional manifestation Abnormal keratinisation false Inferred relationship Some
Van den Bosch syndrome Occurrence Congenital false Inferred relationship Some 5
Van den Bosch syndrome Occurrence Congenital false Inferred relationship Some 6
Van den Bosch syndrome Occurrence Congenital false Inferred relationship Some 7
Van den Bosch syndrome Associated morphology Eruption false Inferred relationship Some 7
Van den Bosch syndrome Finding site Skin structure false Inferred relationship Some 7
Van den Bosch syndrome Associated morphology Degeneration false Inferred relationship Some 6
Van den Bosch syndrome Finding site Choroidal structure false Inferred relationship Some 6
Van den Bosch syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Van den Bosch syndrome Finding site Bone structure false Inferred relationship Some 5
Van den Bosch syndrome Is a Intellectual disability true Inferred relationship Some
Van den Bosch syndrome Interprets Keratinisation false Inferred relationship Some 4
Van den Bosch syndrome Has interpretation Abnormal false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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