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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
5402656017 A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402657014 A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. 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 Congenital dilatation 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 Developmental anomaly 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 Congenital dilatation 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

Component annotation with string value reference set (foundation metadata concept)

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US English

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