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1179282009: Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650468015 Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650469011 Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650467013 A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy. 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
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Intellectual disability true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Microcephaly (finding) true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Eating, feeding and drinking abilities - finding true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Feeding problem true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Genetic disease true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Epilepsy true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) Bilateral cataracts true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 5
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract interprète (attribut) Head circumference true Inferred relationship Some 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract interprète (attribut) Feeding ability true Inferred relationship Some 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract a pour interprétation (attribut) capable avec difficulté (valeur de l'attribut) true Inferred relationship Some 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract localisation d'une constatation (attribut) Structure of lens of right eye true Inferred relationship Some 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract morphologie associée (attribut) opacité true Inferred relationship Some 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract localisation d'une constatation (attribut) Structure of lens of left eye true Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract morphologie associée (attribut) opacité true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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