FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

260379002: Impaired (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
387919014 Impaired en Synonym Active Case insensitive SNOMED CT core
652129014 Impaired (qualifier value) en Fully specified name Active Case insensitive 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
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation True Impaired Inferred relationship Some 7
Intellectual disability Birk-Barel type Has interpretation True Impaired Inferred relationship Some 2
Cryptorchidism, arachnodactyly, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Has interpretation True Impaired Inferred relationship Some 5
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Has interpretation True Impaired Inferred relationship Some 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy Has interpretation True Impaired Inferred relationship Some 3
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Has interpretation True Impaired Inferred relationship Some 5
Microcephalic primordial dwarfism Montreal type Has interpretation True Impaired Inferred relationship Some 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Has interpretation True Impaired Inferred relationship Some 7
Nijmegen breakage syndrome-like disorder Has interpretation True Impaired Inferred relationship Some 5
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Has interpretation True Impaired Inferred relationship Some 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 7
Diencephalic mesencephalic junction dysplasia Has interpretation True Impaired Inferred relationship Some 3
Purine rich element binding protein A syndrome Has interpretation True Impaired Inferred relationship Some 2
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Tall stature, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
Polymicrogyria with optic nerve hypoplasia Has interpretation True Impaired Inferred relationship Some 3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Has interpretation True Impaired Inferred relationship Some 3
Jawad syndrome Has interpretation True Impaired Inferred relationship Some 2
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Has interpretation True Impaired Inferred relationship Some 3
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Has interpretation True Impaired Inferred relationship Some 4
15q overgrowth syndrome Has interpretation True Impaired Inferred relationship Some 5
Autism spectrum disorder due to AUTS2 deficiency Has interpretation True Impaired Inferred relationship Some 2
White Sutton syndrome Has interpretation True Impaired Inferred relationship Some 2
Warburg micro syndrome Has interpretation True Impaired Inferred relationship Some 4
RAB18, member RAS oncogene family deficiency Has interpretation True Impaired Inferred relationship Some 4
Cyclin-dependent kinase-like 5 deficiency Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability, craniofacioskeletal syndrome Has interpretation True Impaired Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Genevieve type Has interpretation True Impaired Inferred relationship Some 4
Zechi Ceide syndrome Has interpretation True Impaired Inferred relationship Some 6
CK syndrome Has interpretation True Impaired Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Has interpretation True Impaired Inferred relationship Some 2
Roifman syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability with strabismus syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, facial dysmorphism, hand anomalies syndrome Has interpretation True Impaired Inferred relationship Some 3
Xylosyltransferase 1 congenital disorder of glycosylation Has interpretation True Impaired Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
14q24.1q24.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Has interpretation True Impaired Inferred relationship Some 5
13q12.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 2
Distal Xq28 microduplication syndrome Has interpretation True Impaired Inferred relationship Some 3
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Deafness with onychodystrophy syndrome Has interpretation True Impaired Inferred relationship Some 6
Ataxia, photosensitivity, short stature syndrome Has interpretation True Impaired Inferred relationship Some 4
Rare non-syndromic intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Piebald trait with neurologic defects syndrome Has interpretation True Impaired Inferred relationship Some 2
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Has interpretation True Impaired Inferred relationship Some 5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, severe speech delay, mild dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 2
Moynahan syndrome Has interpretation True Impaired Inferred relationship Some 3
Blepharophimosis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Woodhouse Sakati syndrome Has interpretation True Impaired Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome Has interpretation True Impaired Inferred relationship Some 9
Biemond syndrome type 2 Has interpretation True Impaired Inferred relationship Some 3
Blepharonasofacial malformation syndrome Has interpretation True Impaired Inferred relationship Some 2
BRESEK syndrome Has interpretation True Impaired Inferred relationship Some 2
Achalasia microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 5
Atkin Flaitz syndrome Has interpretation True Impaired Inferred relationship Some 4
Orofaciodigital syndrome type 9 Has interpretation True Impaired Inferred relationship Some 7
Orofaciodigital syndrome type 11 Has interpretation True Impaired Inferred relationship Some 9
Spondyloepiphyseal dysplasia Nishimura type Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability with ataxia and apraxia syndrome Has interpretation True Impaired Inferred relationship Some 4
X-linked neurodegenerative syndrome Hamel type Has interpretation True Impaired Inferred relationship Some 3
Fried syndrome Has interpretation True Impaired Inferred relationship Some 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Seemanova type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Shashi type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Shrimpton type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Siderius type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Stevenson type Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Stocco Dos Santos type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Stoll type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Turner type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Van Esch type Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Wilson type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Schimke type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Pai type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Miles-Carpenter type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Cilliers type Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability Cantagrel type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Armfield type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Abidi type Has interpretation True Impaired Inferred relationship Some 2
W syndrome Has interpretation True Impaired Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
12q14 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 6
Shprintzen-Goldberg syndrome Has interpretation True Impaired Inferred relationship Some 5
Branchioskeletogenital syndrome Has interpretation True Impaired Inferred relationship Some 4

Start Previous Page 8 of 26 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start