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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 Is a Intellectual disability true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Microcephaly (finding) true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Eating, feeding and drinking abilities - finding true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Feeding problem true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Genetic disease true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Epilepsy true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Bilateral cataracts true Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site Cerebrum 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 Interprets Head circumference true Inferred relationship Some 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Below reference range true Inferred relationship Some 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Feeding ability (observable entity) true Inferred relationship Some 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Difficulty true Inferred relationship Some 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site Structure of lens of right eye true Inferred relationship Some 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Associated morphology Opacity true Inferred relationship Some 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site Structure of lens of left eye true Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Associated morphology Opacity true Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Intellectual ability (observable entity) true Inferred relationship Some 7
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Impaired true Inferred relationship Some 7
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Impaired true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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