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721229003: Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)


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
3324688016 This syndrome has principal characteristics of by 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) 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) survenue (attribut) congénital true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) Superior displacement true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) localisation d'une constatation (attribut) scapula (structure corporelle) true Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) Congenital elevation of scapula true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 3
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) localisation d'une constatation (attribut) scapula (structure corporelle) false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) localisation d'une constatation (attribut) scapula (structure corporelle) false Inferred relationship Some 5
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) morphologie associée (attribut) Superior displacement false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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