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721229003: syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324684019 Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324685018 Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324686017 Ferlini Ragno Calzolari syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324687014 Waaler Aarskog syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6289491000146115 syndroom van Ferlini-Ragno-Calzolari nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6289501000146113 syndroom van Waaler-Aarskog nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7025461000146113 syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7025471000146119 syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5278154017 This syndrome has principal characteristics of Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. 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, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Congenital elevation of scapula true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Finding site Bone structure of scapula false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Finding site Bone structure of scapula false Inferred relationship Some 5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology Superior displacement false Inferred relationship Some 5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology Superior displacement true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Finding site Bone structure of scapula true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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