1292992004: Component annotation with string value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Component annotation with string value reference set (foundation metadata concept)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Component annotation with string value reference set (foundation metadata concept)	Is a	Reference set	true	Inferred relationship	Some

Members	languageDialectCode	typeId	value
Maternal uniparental disomy of chromosome 22 (disorder)	en	Attribution	Inserm Orphanet
Maternal uniparental disomy of chromosome 4	en	Attribution	Inserm Orphanet
Maternal uniparental disomy of chromosome 6 (disorder)	en	Attribution	Inserm Orphanet
Maternal uniparental disomy of chromosome 9	en	Attribution	Inserm Orphanet
Maternal uniparental disomy of chromosome X (disorder)	en	Attribution	Inserm Orphanet
Maternally inherited Leigh syndrome (disorder)	en	Attribution	Inserm Orphanet
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)	en	Attribution	Inserm Orphanet
Maternally inherited mitochondrial dystonia (disorder)	en	Attribution	Inserm Orphanet
Matthew Wood syndrome	en	Attribution	Inserm Orphanet
Maxillonasal dysplasia syndrome (disorder)	en	Attribution	Inserm Orphanet
Mayer Rokitansky Küster Hauser syndrome (disorder)	en	Attribution	Inserm Orphanet
McCune Albright syndrome (disorder)	en	Attribution	Inserm Orphanet
McDonough syndrome (disorder)	en	Attribution	Inserm Orphanet
McLeod neuroacanthocytosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Meacham syndrome (disorder)	en	Attribution	Inserm Orphanet
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	en	Attribution	Inserm Orphanet
Median nodule of upper lip (disorder)	en	Attribution	Inserm Orphanet
Medich giant platelet syndrome (disorder)	en	Attribution	Inserm Orphanet
Megaconial congenital muscular dystrophy	en	Attribution	Inserm Orphanet
Megakaryoblastic acute myeloid leukaemia with t(1;22)(p13;q13)	en	Attribution	Inserm Orphanet
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	en	Attribution	Inserm Orphanet
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	en	Attribution	Inserm Orphanet
Megalocornea with intellectual disability syndrome	en	Attribution	Inserm Orphanet
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)	en	Attribution	Inserm Orphanet
Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)	en	Attribution	Inserm Orphanet
Melanoma and neural system tumour syndrome	en	Attribution	Inserm Orphanet
Melhem Fahl syndrome (disorder)	en	Attribution	Inserm Orphanet
Melorheostosis with osteopoikilosis	en	Attribution	Inserm Orphanet
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)	en	Attribution	Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)	en	Attribution	Inserm Orphanet
Meningioma of uncertain behavior (disorder)	en	Attribution	Inserm Orphanet
Menke Hennekam syndrome	en	Attribution	Inserm Orphanet
Menstrual cycle dependent periodic fever (disorder)	en	Attribution	Inserm Orphanet
Mesenchymal hamartoma of liver (disorder)	en	Attribution	Inserm Orphanet
Mesial temporal lobe epilepsy with hippocampal sclerosis	en	Attribution	Inserm Orphanet
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)	en	Attribution	Inserm Orphanet
Mesomelic dysplasia Kantaputra type (disorder)	en	Attribution	Inserm Orphanet
Mesomelic dysplasia Savarirayan type (disorder)	en	Attribution	Inserm Orphanet
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	en	Attribution	Inserm Orphanet
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	en	Attribution	Inserm Orphanet
Mesomelic dysplasia, digital anomalies, intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Metabolic myopathy due to lactate transporter defect	en	Attribution	Inserm Orphanet
Metaphyseal chondrodysplasia Kaitila type (disorder)	en	Attribution	Inserm Orphanet
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	en	Attribution	Inserm Orphanet
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	en	Attribution	Inserm Orphanet
Metaphyseal dysplasia Braun Tinschert type (disorder)	en	Attribution	Inserm Orphanet
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	en	Attribution	Inserm Orphanet
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Attribution	Inserm Orphanet
MECP2 duplication syndrome	en	Attribution	Inserm Orphanet
Methylcrotonyl-CoA carboxylase deficiency	en	Attribution	Inserm Orphanet
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	en	Attribution	Inserm Orphanet
Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	en	Attribution	Inserm Orphanet
Metopic ridging, ptosis, facial dysmorphism syndrome	en	Attribution	Inserm Orphanet
Mevalonic aciduria (disorder)	en	Attribution	Inserm Orphanet
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	en	Attribution	Inserm Orphanet
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	en	Attribution	Inserm Orphanet
Microcephalic osteodysplastic primordial dwarfism type II	en	Attribution	Inserm Orphanet
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism Alazami type (disorder)	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism Dauber type	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism Montreal type	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism of Toriello type (disorder)	en	Attribution	Inserm Orphanet
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus cardiomyopathy syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus cleft palate syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	en	Attribution	Inserm Orphanet
Hadziselimovic syndrome	en	Attribution	Inserm Orphanet
Microcephalus microcornea syndrome of Seemanova type (disorder)	en	Attribution	Inserm Orphanet
Microcephalus with albinism and digital anomaly syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	en	Attribution	Inserm Orphanet
Microcephalus, complex motor and sensory axonal neuropathy syndrome	en	Attribution	Inserm Orphanet
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephalus, lymphedema, chorioretinopathy syndrome	en	Attribution	Inserm Orphanet
Microcephaly with deafness and intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	en	Attribution	Inserm Orphanet
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder)	en	Attribution	Inserm Orphanet
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	en	Attribution	Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5276957018	Component annotation with string value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
5276958011	Component annotation with string value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)