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732926009: Hydrocephalus, tall stature, joint laxity syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3467423011 Hydrocephalus, tall stature, joint laxity syndrome en Synonym Active Case insensitive SNOMED CT core
3467424017 Daish Hardman Lamont syndrome en Synonym Active Case sensitive SNOMED CT core
3467425016 Hydrocephaly, tall stature, joint laxity syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrocephaly, tall stature, joint laxity syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital true Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital true Inferred relationship Some 3
Hydrocephaly, tall stature, joint laxity syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital true Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of vertebral region of back false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of upper trunk false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Finding site Joint structure true Inferred relationship Some 3
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Abnormal curvature false Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Finding site Structure of musculoskeletal system of thoracic spine true Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Finding site Brain CSF pathway true Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Congenital dilatation false Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital deformity false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Dilatation true Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital deformity of spine false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Interprets Height / growth measure true Inferred relationship Some 4
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of thorax true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Finding site Structure of musculoskeletal system of lumbar spine true Inferred relationship Some 5
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Abnormal curvature false Inferred relationship Some 5
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of lower trunk false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Deformity of lumbar spine true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital true Inferred relationship Some 5
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital anomaly of body wall false Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Disorder of lumbar spine true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Anteroposterior abnormal curvature true Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Anteroposterior abnormal curvature true Inferred relationship Some 5
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital deformity of lumbosacral region true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital hydrocephalus true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Congenital kyphosis true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Disorder of stature true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Joint laxity true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Kyphosis of thoracic spine true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a Arthropathy true Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Interprets Joint movement false Inferred relationship Some 4
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital false Inferred relationship Some 6
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital false Inferred relationship Some 7
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Congenital dilatation false Inferred relationship Some 8
Hydrocephaly, tall stature, joint laxity syndrome Occurrence Congenital false Inferred relationship Some 8
Hydrocephaly, tall stature, joint laxity syndrome Finding site Brain CSF pathway false Inferred relationship Some 8
Hydrocephaly, tall stature, joint laxity syndrome Finding site Joint structure false Inferred relationship Some 6
Hydrocephaly, tall stature, joint laxity syndrome Associated morphology Abnormal curvature false Inferred relationship Some 7
Hydrocephaly, tall stature, joint laxity syndrome Finding site Structure of musculoskeletal system of thoracic spine false Inferred relationship Some 7

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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