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1351837003: Intellectual disability, cupped ears syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5415410016 Intellectual disability, cupped ears syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5415411017 Snijders Blok-Fisher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5415412012 Intellectual disability, cupped ears syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5415413019 A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5415414013 A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. 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
Intellectual disability, cupped ears syndrome Is a Intellectual disability true Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a Congenital abnormality of external ear true Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a Genetic disease true Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Intellectual disability, cupped ears syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
Intellectual disability, cupped ears syndrome Has interpretation Impaired true Inferred relationship Some 2
Intellectual disability, cupped ears syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
Intellectual disability, cupped ears syndrome Has interpretation Impaired true Inferred relationship Some 3
Intellectual disability, cupped ears syndrome Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, cupped ears syndrome Finding site External ear structure true Inferred relationship Some 1
Intellectual disability, cupped ears syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Intellectual disability, cupped ears syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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