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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
5399470013 A rare pervasive developmental disorder characterized by 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
5399471012 A rare pervasive developmental disorder characterised by 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
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
5399470013 A rare pervasive developmental disorder characterized by 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
5399471012 A rare pervasive developmental disorder characterised by 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
517131000274113 Schwere neurologische Entwicklungsstörung mit Fütterproblemen, stereotypen Handbewegungen und bilateraler Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447751001000116 Schwere neurologische Entwicklungsstörung mit Fütterproblemen-stereotype Handbewegungen-bilateraler Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
517131000274113 Schwere neurologische Entwicklungsstörung mit Fütterproblemen, stereotypen Handbewegungen und bilateraler Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447751001000116 Schwere neurologische Entwicklungsstörung mit Fütterproblemen-stereotype Handbewegungen-bilateraler Katarakt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Eating, feeding and drinking abilities - finding true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Feeding problem (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a Bilateral cataracts true Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Feeding ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Difficulty true Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site Structure of lens of right eye true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Finding site Structure of lens of left eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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