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260379002: Impaired (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
387919014 Impaired en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
652129014 Impaired (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Impaired Is a Degree findings true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
2q33.1 microdeletion syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. Has interpretation True Impaired Inferred relationship Some 1
A rare syndromic intellectual disability without congenital anomalies/specific dysmorphic phenotype characterised by delayed psychomotor development, severe intellectual disability, delayed or absent speech development, hypotonia, ataxic gait and feeding difficulties. Clinical symptoms are evident from early infancy. Majority of the patients also present with behavioural abnormalities (including autistic features, aggressive behaviour, low frustration tolerance, and stereotypies such as hand-flapping). Additional clinical features may include inability to walk, seizures, hearing loss, sleep abnormalities, joint hyperlaxity. Nonspecific dysmorphic facial features (small head, strabismus, epicanthal folds, synophrys, high palate, low-set ears, orofacial hypotonia, full eyelids, and eversion of the lower lip) may also be present. Has interpretation True Impaired Inferred relationship Some 2
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Has interpretation True Impaired Inferred relationship Some 5
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Has interpretation True Impaired Inferred relationship Some 6
Cognitive communication disorder (disorder) Has interpretation True Impaired Inferred relationship Some 2
GRN-related frontotemporal dementia Has interpretation True Impaired Inferred relationship Some 3
Frontotemporal dementia with parkinsonism-17 Has interpretation True Impaired Inferred relationship Some 4
Visual aura phenomena featuring shimmering, zigzag patterns that resemble the walls of a medieval fortress, hence the name fortification. They can occur with or without a scotoma (a partial loss of vision). Has interpretation True Impaired Inferred relationship Some 2
Familial multiple system tauopathy Has interpretation True Impaired Inferred relationship Some 3
Pulmonary valve regurgitation due to traumatic injury (disorder) Has interpretation True Impaired Inferred relationship Some 2
A diminished or disrupted internal state of readiness or motivation, resulting in reduced ability to initiate, sustain or direct purposeful behavior or activities. It is often seen in conditions like depression, schizophrenia, or certain neurological disorders. Has interpretation True Impaired Inferred relationship Some 1

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