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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of vertebral region of back false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of upper trunk false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Abnormal curvature false Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Structure of musculoskeletal system of thoracic spine (body structure) true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital deformity of spine false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 4
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of thorax true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Structure of musculoskeletal system of lumbar spine (body structure) true Inferred relationship Some 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Abnormal curvature false Inferred relationship Some 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of lower trunk false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) déformation de la colonne lombale true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of body wall false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Disorder of lumbar spine true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Anteroposterior abnormal curvature true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Anteroposterior abnormal curvature true Inferred relationship Some 5
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital deformity of lumbosacral region true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Congenital kyphosis true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) anomalie staturale true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Joint laxity true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Kyphosis deformity of thoracic spine (disorder) true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) Arthropathy (disorder) true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) interprète (attribut) mouvement de l'articulation false Inferred relationship Some 4
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) morphologie associée (attribut) Abnormal curvature false Inferred relationship Some 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Structure of musculoskeletal system of thoracic spine (body structure) false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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