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732926009: Hydrocephalus, tall stature, joint laxity 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
3467422018 Hydrocephalus, tall stature, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467423011 Hydrocephalus, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467424017 Daish Hardman Lamont syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3467425016 Hydrocephaly, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403635012 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403636013 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterised by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3467422018 Hydrocephalus, tall stature, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467423011 Hydrocephalus, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467424017 Daish Hardman Lamont syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3467425016 Hydrocephaly, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467426015 A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403635012 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403636013 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterised by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440581001000116 Hydrozephalus-Hochwuchs-Gelenklaxität-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276681000241116 syndrome de Daish-Hardman-Lamont fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276691000241119 syndrome d'hydrocéphalie, grande taille et hyperlaxité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276681000241116 syndrome de Daish-Hardman-Lamont fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276691000241119 syndrome d'hydrocéphalie, grande taille et hyperlaxité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440581001000116 Hydrozephalus-Hochwuchs-Gelenklaxität-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
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital kyphosis true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Disorder of stature true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Joint laxity true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Kyphosis of thoracic spine true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Arthropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Interprets Joint movement (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Abnormal curvature (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of musculoskeletal system of thoracic spine (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of vertebral region of back (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of upper trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Abnormal curvature (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of musculoskeletal system of thoracic spine (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a deformità congenita della colonna vertebrale false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of thorax false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of musculoskeletal system of lumbar spine true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Abnormal curvature (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of lower trunk false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Deformity of lumbar spine true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of body wall false Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Disorder of lumbar spine true Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital deformity of lumbosacral region (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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