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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 Reference Sets
3467422018 Hydrocephalus, tall stature, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3467423011 Hydrocephalus, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3467424017 Daish Hardman Lamont syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3467425016 Hydrocephaly, tall stature, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
3955851000052110 syndrom med hydrocefalus, högväxthet och ledslapphet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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 Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital kyphosis true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Disorder of stature true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Joint laxity true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Kyphosis of thoracic spine true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Arthropathy (disorder) true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Interprets Joint movement false Inferred relationship Some 4
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology kongenital dilatation false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 8
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Joint structure false Inferred relationship Some 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Abnormal curvature false Inferred relationship Some 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of musculoskeletal system of thoracic spine (body structure) false Inferred relationship Some 7
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) Occurrence Congenital true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of vertebral region of back false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of upper trunk true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Joint structure true Inferred relationship Some 3
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Abnormal curvature true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Structure of musculoskeletal system of thoracic spine (body structure) true Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology kongenital dilatation false Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital deformity false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Congenital deformity of spine false Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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